V98F (p.Val98Phe) variant of HMGCS2 (P54868)
V98F (p.Val98Phe) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
V98F (p.Val98Phe) variant details
- p.Val98Phe
- Ensembl rs1653146548
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.55
- CADD 25.40
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available