D101V (p.Asp101Val) variant of HMGCS2 (P54868)
D101V (p.Asp101Val) 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.
D101V (p.Asp101Val) variant details
- p.Asp101Val
- ExAC rs751909473
- TOPMed rs751909473
- gnomAD rs751909473
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.89
- CADD 26.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available