Is UBTF p.Lys148Arg (c.443A>G) pathogenic?

UBTF p.Lys148Arg (c.443A>G) is classified Uncertain significance in UBTF (ClinVar, Single submitter, 1 submitter; last evaluated 2023-11-09). AlphaMissense: ambiguous (0.3652); Absent from gnomAD v4.1.

How common is UBTF p.Lys148Arg (c.443A>G) in the general population?

UBTF p.Lys148Arg (c.443A>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about UBTF p.Lys148Arg (c.443A>G)?

AlphaMissense predicts ambiguous (score 0.3652) — an in-silico prediction, not a clinical call.

UBTF p.Lys148Arg

c.443A>G · VCV3363999

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.3652 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/2 damaging

REVEL, SaProt · AlphaMissense no call

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
AlphaMissense	0.3652	ambiguous
REVEL	0.745	pathogenic-leaning
SaProt	LLR -8.24	tolerated
⇒ REVEL calls this damaging; SaProt does not; AlphaMissense makes no call.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 7.8	GERP 2.1, phastCons 1
Regional constraint	o/e 0.00	constrained · MANE · 67 bp · p 2.3e-07 · regional, not allelic
Overall
CADD	28.6	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: UBTF
Protein: p.Lys148Arg
Coding: c.443A>G
MANE Select: NM_014233
Type: single nucleotide variant
Location: chr17:44215685 (GRCh38)

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

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/ubtf-p-lys148arg (accessed [today's date]).

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