R65P (p.Arg65Pro) variant of KCNJ10 (P78508)
R65P (p.Arg65Pro) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Microcephaly; Renal tubular dysfunction; Bilateral sensorineural hearing impairm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and published literature.
R65P (p.Arg65Pro) variant details
- p.Arg65Pro
- rs137853066
- ClinGen CA118807
- ClinVar RCV000007888
- ClinVar RCV001003572
- Pathogenic
- Microcephaly; Renal tubular dysfunction; Bilateral sensorineural hearing impairm
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Microcephaly; Renal tubular dysfunction; Bilateral sensorineural)
- EBI: Pathogenic (in SESAMES)
- UniProt: Pathogenic (in SESAMES)
- Population evidence available
- Cited in: Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by… (PMID 19289823)
- Cited in: Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. (PMID 19420365)