S3L (p.Ser3Leu) variant of HMGCR (P04035)
S3L (p.Ser3Leu) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S3L (p.Ser3Leu) variant details
- p.Ser3Leu
- gnomAD 5-75342613-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.28
- CADD 23.90
- PolyPhen-2 0.12
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available