L75V (p.Leu75Val) variant of F13A1 (Coagulation factor XIII A chain)
L75V (p.Leu75Val) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L75V (p.Leu75Val) variant details
- p.Leu75Val
- TOPMed rs1200131413
- gnomAD rs1200131413
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.58
- MetaLR 0.22
- MetaSVM -0.53
- CADD 17.00
- PolyPhen-2 0.77
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available