A65D (p.Ala65Asp) variant of HMGCS2 (P54868)
A65D (p.Ala65Asp) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
A65D (p.Ala65Asp) variant details
- p.Ala65Asp
- TOPMed rs1485324823
- gnomAD rs1485324823
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.55
- CADD 26.20
- PolyPhen-2 0.69
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available