Y76F (p.Tyr76Phe) variant of HMGCS2 (P54868)
Y76F (p.Tyr76Phe) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Y76F (p.Tyr76Phe) variant details
- p.Tyr76Phe
- gnomAD rs1413432644
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.30
- CADD 8.25
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available