A65G (p.Ala65Gly) variant of HMGCS2 (P54868)
A65G (p.Ala65Gly) in HMGCS2 (P54868) 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 and structural context.
A65G (p.Ala65Gly) variant details
- p.Ala65Gly
- TOPMed rs1485324823
- gnomAD rs1485324823
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.31
- CADD 22.90
- PolyPhen-2 0.28
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available