S15F (p.Ser15Phe) variant of HMGCR (P04035)
S15F (p.Ser15Phe) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S15F (p.Ser15Phe) variant details
- p.Ser15Phe
- gnomAD 5-75342649-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.47
- CADD 27.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available