V42F (p.Val42Phe) variant of HMGCS2 (P54868)
V42F (p.Val42Phe) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V42F (p.Val42Phe) variant details
- p.Val42Phe
- ESP rs375279621
- ExAC rs375279621
- TOPMed rs375279621
- gnomAD rs375279621
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.16
- CADD 14.30
- PolyPhen-2 0.08
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available