V79M (p.Val79Met) variant of HMGCS2 (P54868)
V79M (p.Val79Met) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
V79M (p.Val79Met) variant details
- p.Val79Met
- ExAC rs763001714
- TOPMed rs763001714
- gnomAD rs763001714
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.82
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available