V84M (p.Val84Met) variant of KCNJ10 (P78508)
V84M (p.Val84Met) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; EAST syndrome; Autosomal recessive nonsyndromic hearing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
V84M (p.Val84Met) variant details
- p.Val84Met
- rs140646329
- ClinGen CA315265
- cosmic curated COSV10092
- ClinVar RCV000187807
- Uncertain significance
- Inborn genetic diseases; EAST syndrome; Autosomal recessive nonsyndromic hearing
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases; EAST syndrome; Autosomal recessive nons)
- 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)