C64Y (p.Cys64Tyr) variant of CLDN14 (Claudin-14)
C64Y (p.Cys64Tyr) in CLDN14 (Claudin-14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 29. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
C64Y (p.Cys64Tyr) variant details
- p.Cys64Tyr
- rs1568839335
- ClinGen CA409883247
- ClinVar RCV000735776
- Ensembl rs1568839335
- Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 29
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.95
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 29)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available