Y48Y (p.Tyr48Tyr) variant of HMGCR (P04035)
Y48Y (p.Tyr48Tyr) in HMGCR (P04035) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
Y48Y (p.Tyr48Tyr) variant details
- p.Tyr48Tyr
- rs1359795975
- gnomAD 5-75342749-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 5.17
- Population evidence available
- Structural context available
- Literature evidence available