A8V (p.Ala8Val) variant of F13A1 (Coagulation factor XIII A chain)
A8V (p.Ala8Val) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- TOPMed rs931241469
- gnomAD rs931241469
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.25
- MetaLR 0.03
- MetaSVM -1.02
- CADD 15.30
- PolyPhen-2 0.02
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available