H101R (p.His101Arg) variant of F5 (Coagulation factor V)
H101R (p.His101Arg) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
H101R (p.His101Arg) variant details
- p.His101Arg
- TOPMed rs1395239078
- gnomAD rs1395239078
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.78
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available