R32S (p.Arg32Ser) variant of CLDN14 (Claudin-14)
R32S (p.Arg32Ser) in CLDN14 (Claudin-14) 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 29. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R32S (p.Arg32Ser) variant details
- p.Arg32Ser
- rs886057050
- ClinGen CA10650456
- ClinVar RCV000343853
- gnomAD rs886057050
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 29
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.58
- CADD 0.99
- PolyPhen-2 0.11
- SIFT 0.68
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 29)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available