Is F11 p.Thr150Ala (c.448A>G) pathogenic?

F11 p.Thr150Ala (c.448A>G) is classified Uncertain significance in F11 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-09-29). AlphaMissense: ambiguous (0.4149); Absent from gnomAD v4.1.

How common is F11 p.Thr150Ala (c.448A>G) in the general population?

F11 p.Thr150Ala (c.448A>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about F11 p.Thr150Ala (c.448A>G)?

AlphaMissense predicts ambiguous (score 0.4149) — an in-silico prediction, not a clinical call.

F11 p.Thr150Ala

c.448A>G · rs1740201176 · VCV995627

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.4149 · 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	0.4149	ambiguous
REVEL	0.766	pathogenic-leaning
SaProt	LLR -9.84	tolerated
⇒ REVEL calls this damaging; SaProt does not; AlphaMissense makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 9	GERP 2.4, phastCons 1
Overall
CADD	22.6	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: F11
Protein: p.Thr150Ala
Coding: c.448A>G
MANE Select: NM_001322131 · reported on NM_000128
dbSNP: rs1740201176
Type: single nucleotide variant
Location: chr4:186274238 (GRCh38)
Structure: AlphaFold pLDDT 68.98

Full F11 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

F11 p.Thr150Met Likely pathogenic ★★ ⚠ same residue
F11 p.Thr150Lys Likely pathogenic ★ same residue
F11 p.Thr150= Likely benign ★ same residue
ZNF160 p.Gly150Arg Likely benign ★ same residue
F11 p.Thr150fs Pathogenic ★ same residue
F11 c.1136-1G>C Likely pathogenic ★★ same type
F11 c.1480+1G>T Likely pathogenic ★★ same type
F11 c.1481-1G>T Likely pathogenic ★★ 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/f11-p-thr150ala (accessed [today's date]).

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