A72P (p.Ala72Pro) variant of HMGCR (P04035)
A72P (p.Ala72Pro) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A72P (p.Ala72Pro) variant details
- p.Ala72Pro
- gnomAD 5-75343901-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.86
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available