D56D (p.Asp56Asp) variant of HMGCR (P04035)
D56D (p.Asp56Asp) in HMGCR (P04035) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D56D (p.Asp56Asp) variant details
- p.Asp56Asp
- gnomAD 5-75343855-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 15.20
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available