Is F8A1 p.Pro15Arg (c.44C>G) pathogenic?

F8A1 p.Pro15Arg (c.44C>G) is classified Uncertain significance in F8A1 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-06-19). No allele count reported in gnomAD v4.1 (AN 109,837).

How common is F8A1 p.Pro15Arg (c.44C>G) in the general population?

F8A1 p.Pro15Arg (c.44C>G) is no allele count reported in gnomAD v4.1 (AN 109,837) (gnomAD).

F8A1 p.Pro15Arg

c.44C>G · VCV4252410

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 109,837)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.072	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -3.2	GERP -1.9
Regional constraint	o/e 0.00	constrained · MANE · 1,112 bp · p 1.1e-19 · regional, not allelic
Overall
CADD	12.61	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 109,837). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: F8A1
Protein: p.Pro15Arg
Coding: c.44C>G
MANE Select: NM_012151
Type: single nucleotide variant
Location: chrX:154886418 (GRCh38)
Structure: AlphaFold pLDDT 78.88 · 10 PDB

Full F8A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

F8A1 p.Gly11Cys Uncertain significance ★ same type
F8A1 p.Gly14Ala Uncertain significance ★ same type
F8A1 p.Leu279Val Uncertain significance ★ same type
F8A1 p.Leu360Arg Uncertain significance ★ same type
F8A1 p.Leu8Arg Uncertain significance ★ same type
F8A1 p.Thr329Ile Uncertain significance ★ same type
F8A1 p.Val342Leu Uncertain significance ★ same type
F8A1 p.Val43Met 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/f8a1-p-pro15arg (accessed [today's date]).

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