Q127R (p.Gln127Arg) variant of F13A1 (Coagulation factor XIII A chain)
Q127R (p.Gln127Arg) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q127R (p.Gln127Arg) variant details
- p.Gln127Arg
- gnomAD rs1050673198
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.17
- MetaLR 0.25
- MetaSVM -0.85
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available