M36V (p.Met36Val) variant of HMGCR (P04035)
M36V (p.Met36Val) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
M36V (p.Met36Val) variant details
- p.Met36Val
- ESP rs201541062
- ExAC rs201541062
- TOPMed rs201541062
- gnomAD rs201541062
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.23
- CADD 20.30
- PolyPhen-2 0.03
- SIFT 0.59
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available