S2L (p.Ser2Leu) variant of F13A1 (Coagulation factor XIII A chain)
S2L (p.Ser2Leu) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- ExAC rs757892043
- gnomAD rs757892043
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.38
- MetaLR 0.24
- MetaSVM -0.47
- CADD 23.70
- PolyPhen-2 0.28
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available