G77R (p.Gly77Arg) variant of KCNJ10 (P78508)
G77R (p.Gly77Arg) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature.
G77R (p.Gly77Arg) variant details
- p.Gly77Arg
- rs137853072
- ClinGen CA118814
- ClinVar RCV000007894
- UniProt VAR 063060
- Pathogenic
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.57
- ClinVar: Pathogenic (EAST syndrome)
- EBI: Pathogenic (in SESAMES)
- UniProt: Pathogenic (in SESAMES)
- Cited in: Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. (PMID 19420365)
- Cited in: KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel… (PMID 20651251)