R27H (p.Arg27His) variant of HMGCS2 (P54868)
R27H (p.Arg27His) 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 0.11 / 1. The record also includes population frequency data and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- rs757169217
- NCI-TCGA Cosmic COSV6556
- ExAC rs757169217
- TOPMed rs757169217
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.09
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.56
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available