E103K (p.Glu103Lys) variant of F13A1 (Coagulation factor XIII A chain)
E103K (p.Glu103Lys) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E103K (p.Glu103Lys) variant details
- p.Glu103Lys
- gnomAD rs1758498099
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.80
- MetaLR 0.38
- MetaSVM -0.29
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available