C50C (p.Cys50Cys) variant of HMGCR (P04035)
C50C (p.Cys50Cys) in HMGCR (P04035) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
C50C (p.Cys50Cys) variant details
- p.Cys50Cys
- gnomAD 5-75342755-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.287
- CADD 13.20
- Population evidence available
- Structural context available
- Literature evidence available