A14V (p.Ala14Val) variant of F13A1 (Coagulation factor XIII A chain)
A14V (p.Ala14Val) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs760607637
- ExAC rs760607637
- gnomAD rs760607637
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.32
- MetaLR 0.11
- MetaSVM -1.01
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available