K103Q (p.Lys103Gln) variant of F5 (Coagulation factor V)
K103Q (p.Lys103Gln) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
K103Q (p.Lys103Gln) variant details
- p.Lys103Gln
- ExAC rs779420274
- gnomAD rs779420274
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.81
- CADD 26.10
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available