D101G (p.Asp101Gly) variant of HMGCS2 (P54868)
D101G (p.Asp101Gly) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
D101G (p.Asp101Gly) variant details
- p.Asp101Gly
- ExAC rs751909473
- TOPMed rs751909473
- gnomAD rs751909473
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.88
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available