P51A (p.Pro51Ala) variant of HMGCR (P04035)
P51A (p.Pro51Ala) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P51A (p.Pro51Ala) variant details
- p.Pro51Ala
- gnomAD 5-75342756-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.62
- CADD 23.20
- PolyPhen-2 0.51
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available