R65S (p.Arg65Ser) variant of KCNJ10 (P78508)
R65S (p.Arg65Ser) in KCNJ10 (P78508) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in SESAMES. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
R65S (p.Arg65Ser) variant details
- p.Arg65Ser
- ExAC rs387906834
- TOPMed rs387906834
- gnomAD rs387906834
- Likely pathogenic
- in SESAMES
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 25.80
- EBI: Likely pathogenic (in SESAMES)
- UniProt: Likely pathogenic (in SESAMES)
- Population evidence available