S80P (p.Ser80Pro) variant of F5 (Coagulation factor V)
S80P (p.Ser80Pro) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S80P (p.Ser80Pro) variant details
- p.Ser80Pro
- cosmic curated COSV10890
- ExAC rs760150193
- gnomAD rs760150193
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.38
- CADD 15.60
- PolyPhen-2 0.29
- SIFT 0.39
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available