Is UNG p.Val148Phe (c.442G>T) pathogenic?

UNG p.Val148Phe (c.442G>T) is classified Uncertain significance in UNG (ClinVar, Single submitter, 1 submitter; last evaluated 2022-09-06). AlphaMissense: likely pathogenic (0.9701); Absent from gnomAD v4.1.

How common is UNG p.Val148Phe (c.442G>T) in the general population?

UNG p.Val148Phe (c.442G>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about UNG p.Val148Phe (c.442G>T)?

AlphaMissense predicts likely pathogenic (score 0.9701) — an in-silico prediction, not a clinical call.

UNG p.Val148Phe

c.442G>T · rs2042180766 · VCV2310326

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.9701 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

3/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.9701	likely pathogenic
REVEL	0.726	pathogenic-leaning
SaProt	LLR -16.52	damaging
⇒ AlphaMissense, REVEL and SaProt all call this damaging.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 12	GERP 4.8, phastCons 1
Regional constraint	o/e 0.98	unconstrained · MANE · 12 kb · p 0.74 · regional, not allelic
Overall
CADD	32.0	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean damaging — a triage signal, not a reclassification

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: UNG
Protein: p.Val148Phe
Coding: c.442G>T
MANE Select: NM_080911
dbSNP: rs2042180766
Type: single nucleotide variant
Location: chr12:109101908 (GRCh38)
Gene constraint: LOEUF 1.22 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.52 · 24 PDB
Residue 148: a β-strand

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

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UNG p.Ala87Val Uncertain significance ★★ ⚠ same type
UNG p.Arg122Ser Uncertain significance ★★ ⚠ same type
UNG p.Arg269Trp Uncertain significance ★★ ⚠ same type
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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/ung-p-val148phe (accessed [today's date]).

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