I60V (p.Ile60Val) variant of KCNJ10 (P78508)
I60V (p.Ile60Val) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pendred syndrome; EAST syndrome; Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
I60V (p.Ile60Val) variant details
- p.Ile60Val
- rs1648629565
- ClinGen CA343229735
- ClinVar RCV001895948
- ClinVar RCV002482657
- Uncertain significance
- Pendred syndrome; EAST syndrome; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- CADD 15.10
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (Pendred syndrome; EAST syndrome; Autosomal recessive nonsyndromi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)