I102M (p.Ile102Met) variant of HMGCS2 (P54868)
I102M (p.Ile102Met) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
I102M (p.Ile102Met) variant details
- p.Ile102Met
- TOPMed rs955697615
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.76
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available