H33L (p.His33Leu) variant of HMGCS2 (P54868)
H33L (p.His33Leu) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H33L (p.His33Leu) variant details
- p.His33Leu
- ExAC rs759183803
- gnomAD rs759183803
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.23
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.74
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available