V61A (p.Val61Ala) variant of HMGCS2 (P54868)
V61A (p.Val61Ala) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
V61A (p.Val61Ala) variant details
- p.Val61Ala
- ExAC rs779833095
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.76
- CADD 26.00
- PolyPhen-2 0.74
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available