Is DBI p.Arg14Ser (c.42G>T) pathogenic?

DBI p.Arg14Ser (c.42G>T) is classified Uncertain significance in DBI (ClinVar, Single submitter, 1 submitter; last evaluated 2025-08-05). AlphaMissense: likely pathogenic (0.5646); Absent from gnomAD v4.1.

How common is DBI p.Arg14Ser (c.42G>T) in the general population?

DBI p.Arg14Ser (c.42G>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about DBI p.Arg14Ser (c.42G>T)?

AlphaMissense predicts likely pathogenic (score 0.5646) — an in-silico prediction, not a clinical call.

DBI p.Arg14Ser

c.42G>T · VCV4237709

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.5646 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.5646	likely pathogenic
REVEL	0.064	moderately benign-leaning
SaProt	LLR -9.81	tolerated
⇒ AlphaMissense calls this damaging; REVEL and SaProt do not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.4	GERP 1.1, phastCons 0.99
Overall
CADD	20.1	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: DBI
Protein: p.Arg14Ser
Coding: c.42G>T
MANE Select: NM_000714 · reported on NM_001079862
Type: single nucleotide variant
Location: chr2:119368220 (GRCh38)
Structure: AlphaFold pLDDT 44.67

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

Similar variants

TSPO p.Ala14Val Likely benign ★ same residue
DBI p.Ala35Val Uncertain significance ★ same type
DBI p.Arg44Trp Uncertain significance ★ ⚠ same type
DBI p.Asp57Gly Uncertain significance ★ same type
DBI p.Glu24Gln Uncertain significance ★ ⚠ same type
DBI p.Gly64Ala Uncertain significance ★ same type
DBI p.Ile28Met Uncertain significance ★ ⚠ same type
DBI p.Ile40Arg 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/dbi-p-arg14ser (accessed [today's date]).

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