V120A (p.Val120Ala) variant of F13A1 (Coagulation factor XIII A chain)
V120A (p.Val120Ala) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
V120A (p.Val120Ala) variant details
- p.Val120Ala
- gnomAD rs1185244838
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.65
- MetaLR 0.72
- MetaSVM 0.58
- CADD 23.90
- PolyPhen-2 0.28
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available