L126F (p.Leu126Phe) variant of F13A1 (Coagulation factor XIII A chain)
L126F (p.Leu126Phe) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L126F (p.Leu126Phe) variant details
- p.Leu126Phe
- ExAC rs748285860
- gnomAD rs748285860
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.20
- MetaLR 0.15
- MetaSVM -0.92
- CADD 10.80
- PolyPhen-2 0.02
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available