D56N (p.Asp56Asn) variant of HMGCR (P04035)
D56N (p.Asp56Asn) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
D56N (p.Asp56Asn) variant details
- p.Asp56Asn
- cosmic curated COSV55314
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.38
- CADD 25.00
- PolyPhen-2 0.11
- SIFT 0.26
- Population evidence available
- Structural context available