H57Y (p.His57Tyr) variant of CLDN14 (Claudin-14)
H57Y (p.His57Tyr) in CLDN14 (Claudin-14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hearing impairment. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
H57Y (p.His57Tyr) variant details
- p.His57Tyr
- rs745601274
- ClinGen CA10019330
- ClinVar RCV001375125
- ExAC rs745601274
- Uncertain significance
- Hearing impairment
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.55
- CADD 21.60
- PolyPhen-2 0.11
- SIFT 0.40
- ClinVar: Uncertain significance (Hearing impairment)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available