R48C (p.Arg48Cys) variant of KCNJ10 (P78508)
R48C (p.Arg48Cys) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EAST syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
R48C (p.Arg48Cys) variant details
- p.Arg48Cys
- rs754056344
- ClinGen CA1193289
- ClinVar RCV001238790
- ClinVar RCV001568647
- Uncertain significance
- EAST syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 23.90
- PolyPhen-2 0.76
- SIFT 0.18
- ClinVar: Uncertain significance (EAST syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available