V98A (p.Val98Ala) variant of HMGCS2 (P54868)
V98A (p.Val98Ala) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V98A (p.Val98Ala) variant details
- p.Val98Ala
- Ensembl rs1571042499
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.29
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available