I60T (p.Ile60Thr) variant of KCNJ10 (P78508)
I60T (p.Ile60Thr) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Autosomal recessive nonsyndromic hearing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
I60T (p.Ile60Thr) variant details
- p.Ile60Thr
- rs759993423
- ClinGen CA315278
- cosmic curated COSV63633
- ClinVar RCV000187814
- Conflicting interpretations
- Inborn genetic diseases; not provided; Autosomal recessive nonsyndromic hearing
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 25.40
- PolyPhen-2 0.52
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Autosomal recessive nonsy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)