K6N (p.Lys6Asn) variant of KCNJ10 (P78508)
K6N (p.Lys6Asn) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
K6N (p.Lys6Asn) variant details
- p.Lys6Asn
- rs1280213852
- NCI-TCGA Cosmic COSV6363
- cosmic curated COSV63632
- TOPMed rs1280213852
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available