Q63P (p.Gln63Pro) variant of KCNJ10 (P78508)
Q63P (p.Gln63Pro) 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 record also includes structural context.
Q63P (p.Gln63Pro) variant details
- p.Gln63Pro
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10092
- TOPMed rs1648629284
- Uncertain significance
- Inborn genetic diseases; EAST syndrome; Autosomal recessive nonsyndromic hearing
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; EAST syndrome; Autosomal recessive nons)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available