D61V (p.Asp61Val) variant of HMGCR (P04035)
D61V (p.Asp61Val) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
D61V (p.Asp61Val) variant details
- p.Asp61Val
- gnomAD 5-75343869-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.93
- CADD 29.80
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available