S15P (p.Ser15Pro) variant of HMGCR (P04035)
S15P (p.Ser15Pro) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S15P (p.Ser15Pro) variant details
- p.Ser15Pro
- TOPMed rs1760049073
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.42
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available