Q79K (p.Gln79Lys) variant of F5 (Coagulation factor V)
Q79K (p.Gln79Lys) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q79K (p.Gln79Lys) variant details
- p.Gln79Lys
- ExAC rs750955397
- gnomAD rs750955397
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.28
- CADD 21.10
- PolyPhen-2 0.06
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available