R48P (p.Arg48Pro) variant of KCNJ10 (P78508)
R48P (p.Arg48Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
R48P (p.Arg48Pro) variant details
- p.Arg48Pro
- rs201907875
- ClinGen CA343229948
- ClinVar RCV000824215
- 1000Genomes rs201907875
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 19.80
- PolyPhen-2 0.41
- SIFT 0.22
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available