Is ENTPD7 p.Tyr65Ser (c.194A>C) pathogenic?

ENTPD7 p.Tyr65Ser (c.194A>C) is classified Uncertain significance in ENTPD7 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-03-21). AlphaMissense: ambiguous (0.3709); Absent from gnomAD v4.1.

How common is ENTPD7 p.Tyr65Ser (c.194A>C) in the general population?

ENTPD7 p.Tyr65Ser (c.194A>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ENTPD7 p.Tyr65Ser (c.194A>C)?

AlphaMissense predicts ambiguous (score 0.3709) — an in-silico prediction, not a clinical call.

ENTPD7 p.Tyr65Ser

c.194A>C · rs764070287 · VCV2527836

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.3709 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/2 damaging

REVEL, SaProt · AlphaMissense no call

Computational evidence

Protein change
AlphaMissense	0.3709	ambiguous
REVEL	0.285	benign-leaning
SaProt	LLR -10.82	damaging
⇒ SaProt calls this damaging; REVEL does not; AlphaMissense makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 11	GERP 2.8, phastCons 1
Regional constraint	o/e 0.87	unconstrained · MANE · 41 kb · p 0.0028 · regional, not allelic
Overall
CADD	26.5	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: ENTPD7
Protein: p.Tyr65Ser
Coding: c.194A>C
MANE Select: NM_020354
dbSNP: rs764070287
Type: single nucleotide variant
Location: chr10:99679263 (GRCh38)
Gene constraint: LOEUF 0.813 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 84.57

Full ENTPD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

COX15 c.*2742A>G Uncertain significance ★ same type
COX15 c.*3086G>T Uncertain significance ★ same type
COX15 c.*3330A>G Uncertain significance ★ same type
COX15 c.*3362T>C Uncertain significance ★ same type
COX15 c.*3670G>A Uncertain significance ★ same type
COX15 c.*3729C>G Uncertain significance ★ same type
COX15 c.*4110T>G Uncertain significance ★ same type
COX15 c.*4435A>G Uncertain significance ★ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/entpd7-p-tyr65ser (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown