R4G (p.Arg4Gly) variant of HMGCR (P04035)
R4G (p.Arg4Gly) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- gnomAD 5-75342615-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.39
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available