R7C (p.Arg7Cys) variant of F5 (Coagulation factor V)
R7C (p.Arg7Cys) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R7C (p.Arg7Cys) variant details
- p.Arg7Cys
- gnomAD rs1374180175
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.27
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available