A119V (p.Ala119Val) variant of F13B (Coagulation factor XIII B chain)
A119V (p.Ala119Val) in F13B (Coagulation factor XIII B 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 0.16 / 1. The record also includes population frequency data and structural context.
A119V (p.Ala119Val) variant details
- p.Ala119Val
- rs767986906
- NCI-TCGA Cosmic COSV6637
- ExAC rs767986906
- gnomAD rs767986906
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.05
- CADD 17.20
- PolyPhen-2 0.19
- SIFT 0.43
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00029)
- Structural context available