H113N (p.His113Asn) variant of F5 (Coagulation factor V)
H113N (p.His113Asn) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
H113N (p.His113Asn) variant details
- p.His113Asn
- cosmic curated COSV63126
- ExAC rs772893800
- gnomAD rs772893800
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.94
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available