A133S (p.Ala133Ser) variant of F13A1 (Coagulation factor XIII A chain)
A133S (p.Ala133Ser) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A133S (p.Ala133Ser) variant details
- p.Ala133Ser
- 1000Genomes rs141030077
- ExAC rs141030077
- TOPMed rs141030077
- gnomAD rs141030077
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.52
- MetaLR 0.68
- MetaSVM 0.44
- CADD 23.20
- PolyPhen-2 0.81
- SIFT 0.18
- Most common in the 1KG:LWK population (allele frequency 0.012)
- Structural context available