F75L (p.Phe75Leu) variant of KCNJ10 (P78508)
F75L (p.Phe75Leu) 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 0.25 / 1. The record also includes population frequency data and published literature.
F75L (p.Phe75Leu) variant details
- p.Phe75Leu
- rs757159382
- ClinGen CA31471247
- ClinVar RCV000023176
- ExAC rs757159382
- Pathogenic
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (EAST syndrome)
- EBI: Pathogenic (in SESAMES)
- UniProt: Pathogenic (in SESAMES)
- Population evidence available
- Cited in: KCNJ10 mutations disrupt function in patients with EAST syndrome. (PMID 21849804)
- Cited in: Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by… (PMID 19289823)