V22A (p.Val22Ala) variant of HMGCR (P04035)
V22A (p.Val22Ala) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V22A (p.Val22Ala) variant details
- p.Val22Ala
- TOPMed rs1273881990
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.60
- CADD 28.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available