G125V (p.Gly125Val) variant of F5 (Coagulation factor V)
G125V (p.Gly125Val) in F5 (Coagulation factor V) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
G125V (p.Gly125Val) variant details
- p.Gly125Val
- ExAC rs760694648
- gnomAD rs760694648
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.97
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available