T164I (p.Thr164Ile) variant of KCNJ10 (P78508)
T164I (p.Thr164Ile) 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 0.64 / 1. The record also includes published literature and structural context.
T164I (p.Thr164Ile) variant details
- p.Thr164Ile
- rs137853069
- ClinGen CA118811
- ClinVar RCV000007891
- UniProt VAR 063062
- Pathogenic
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 0.83
- MetaLR 0.74
- MetaSVM 0.63
- PolyPhen-2 1.00
- SIFT 0.32
- EVE 0.17
- ClinVar: Pathogenic (EAST syndrome)
- EBI: Pathogenic (in SESAMES)
- UniProt: Pathogenic (in SESAMES)
- Structural context available
- Cited in: Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by… (PMID 19289823)
- Cited in: Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10). (PMID 20807765)