P64L (p.Pro64Leu) variant of HMGCS2 (P54868)
P64L (p.Pro64Leu) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
P64L (p.Pro64Leu) variant details
- p.Pro64Leu
- gnomAD rs1185689932
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.96
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available