V8A (p.Val8Ala) variant of HMGCS2 (P54868)
V8A (p.Val8Ala) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- gnomAD rs1452551580
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.11
- CADD 8.77
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available