I82M (p.Ile82Met) variant of F5 (Coagulation factor V)
I82M (p.Ile82Met) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
I82M (p.Ile82Met) variant details
- p.Ile82Met
- ExAC rs759349978
- gnomAD rs759349978
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.41
- CADD 20.80
- PolyPhen-2 0.91
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available