R10H (p.Arg10His) variant of HMGCS2 (P54868)
R10H (p.Arg10His) in HMGCS2 (P54868) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
R10H (p.Arg10His) variant details
- p.Arg10His
- rs766960590
- ExAC rs766960590
- gnomAD rs766960590
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.26
- CADD 3.48
- PolyPhen-2 0.15
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available