V42I (p.Val42Ile) variant of HMGCS2 (P54868)
V42I (p.Val42Ile) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V42I (p.Val42Ile) variant details
- p.Val42Ile
- ESP rs375279621
- ExAC rs375279621
- TOPMed rs375279621
- gnomAD rs375279621
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.15
- CADD 9.33
- PolyPhen-2 0.03
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available