M31V (p.Met31Val) variant of HMGCR (P04035)
M31V (p.Met31Val) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
M31V (p.Met31Val) variant details
- p.Met31Val
- ExAC rs769016687
- gnomAD rs769016687
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.10
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available