A14V (p.Ala14Val) variant of HMGCR (P04035)
A14V (p.Ala14Val) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- ExAC rs763611929
- TOPMed rs763611929
- gnomAD rs763611929
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.43
- CADD 24.40
- PolyPhen-2 0.39
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available