C106S (p.Cys106Ser) variant of HMGCS2 (P54868)
C106S (p.Cys106Ser) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
C106S (p.Cys106Ser) variant details
- p.Cys106Ser
- ExAC rs750575658
- gnomAD rs750575658
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.71
- CADD 24.40
- PolyPhen-2 0.81
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available