Q79E (p.Gln79Glu) variant of F5 (Coagulation factor V)
Q79E (p.Gln79Glu) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q79E (p.Gln79Glu) variant details
- p.Gln79Glu
- ExAC rs750955397
- gnomAD rs750955397
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.26
- CADD 19.10
- PolyPhen-2 0.14
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available