R134S (p.Arg134Ser) variant of KCNJ10 (P78508)
R134S (p.Arg134Ser) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1.
R134S (p.Arg134Ser) variant details
- p.Arg134Ser
- rs1648622680
- ClinGen CA343227637
- ClinVar RCV001730055
- TOPMed rs1648622680
- Likely pathogenic
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (EAST syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic