R92C (p.Arg92Cys) variant of HMGCS2 (P54868)
R92C (p.Arg92Cys) in HMGCS2 (P54868) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R92C (p.Arg92Cys) variant details
- p.Arg92Cys
- cosmic curated COSV10529
- ExAC rs771955824
- TOPMed rs771955824
- gnomAD rs771955824
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.31
- CADD 22.90
- PolyPhen-2 0.75
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available