M8V (p.Met8Val) variant of HMGCR (P04035)
M8V (p.Met8Val) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
M8V (p.Met8Val) variant details
- p.Met8Val
- gnomAD rs1267761914
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.14
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available