S60N (p.Ser60Asn) variant of HMGCR (P04035)
S60N (p.Ser60Asn) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S60N (p.Ser60Asn) variant details
- p.Ser60Asn
- gnomAD 5-75343866-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.56
- CADD 24.40
- PolyPhen-2 0.57
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available