M41V (p.Met41Val) variant of KCNJ10 (P78508)
M41V (p.Met41Val) 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.
M41V (p.Met41Val) variant details
- p.Met41Val
- TOPMed rs1427151114
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome
- Missense
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance