V4I (p.Val4Ile) variant of KCNJ10 (P78508)
V4I (p.Val4Ile) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; EAST syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and published literature.
V4I (p.Val4Ile) variant details
- p.Val4Ile
- rs144428351
- ClinGen CA1193308
- ClinVar RCV000500028
- ClinVar RCV001865609
- Uncertain significance
- not specified; EAST syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (not specified; EAST syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)