C50Y (p.Cys50Tyr) variant of HMGCR (P04035)
C50Y (p.Cys50Tyr) 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.
C50Y (p.Cys50Tyr) variant details
- p.Cys50Tyr
- gnomAD 5-75342754-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.86
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available