S2P (p.Ser2Pro) variant of F13A1 (Coagulation factor XIII A chain)
S2P (p.Ser2Pro) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S2P (p.Ser2Pro) variant details
- p.Ser2Pro
- 1000Genomes rs557825091
- ExAC rs557825091
- gnomAD rs557825091
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.35
- MetaLR 0.23
- MetaSVM -0.80
- CADD 23.00
- PolyPhen-2 0.64
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available