R35K (p.Arg35Lys) variant of HMGCS2 (P54868)
R35K (p.Arg35Lys) in HMGCS2 (P54868) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R35K (p.Arg35Lys) variant details
- p.Arg35Lys
- ExAC rs751101083
- TOPMed rs751101083
- gnomAD rs751101083
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.17
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available