M21I (p.Met21Ile) variant of KCNJ10 (P78508)
M21I (p.Met21Ile) 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 0.60 / 1. The record also includes population frequency data.
M21I (p.Met21Ile) variant details
- p.Met21Ile
- rs746292052
- ExAC rs746292052
- gnomAD rs746292052
- ClinGen CA1193302
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available