V109M (p.Val109Met) variant of HMGCS2 (P54868)
V109M (p.Val109Met) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
V109M (p.Val109Met) variant details
- p.Val109Met
- ExAC rs776751915
- gnomAD rs776751915
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.85
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available