R112K (p.Arg112Lys) variant of CASP9 (Caspase-9)
R112K (p.Arg112Lys) in CASP9 (Caspase-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R112K (p.Arg112Lys) variant details
- p.Arg112Lys
- rs147312128
- ClinGen CA614649
- ClinVar RCV004277643
- ESP rs147312128
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.09
- CADD 3.88
- PolyPhen-2 0.03
- SIFT 0.91
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available