R118G (p.Arg118Gly) variant of F5 (Coagulation factor V)
R118G (p.Arg118Gly) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R118G (p.Arg118Gly) variant details
- p.Arg118Gly
- ExAC rs768697206
- gnomAD rs768697206
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.56
- CADD 20.10
- PolyPhen-2 0.06
- SIFT 0.20
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available