V120L (p.Val120Leu) variant of F13A1 (Coagulation factor XIII A chain)
V120L (p.Val120Leu) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V120L (p.Val120Leu) variant details
- p.Val120Leu
- ExAC rs774094090
- gnomAD rs774094090
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.38
- MetaLR 0.45
- MetaSVM -0.05
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available