Y84C (p.Tyr84Cys) variant of HMGCS2 (P54868)
Y84C (p.Tyr84Cys) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
Y84C (p.Tyr84Cys) variant details
- p.Tyr84Cys
- TOPMed rs1162910493
- gnomAD rs1162910493
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.92
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available