S2A (p.Ser2Ala) variant of F13A1 (Coagulation factor XIII A chain)
S2A (p.Ser2Ala) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S2A (p.Ser2Ala) variant details
- p.Ser2Ala
- 1000Genomes rs557825091
- ExAC rs557825091
- gnomAD rs557825091
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.23
- MetaLR 0.14
- MetaSVM -0.92
- CADD 15.20
- SIFT 0.11
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available