H57Q (p.His57Gln) variant of CLDN14 (Claudin-14)
H57Q (p.His57Gln) in CLDN14 (Claudin-14) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
H57Q (p.His57Gln) variant details
- p.His57Gln
- ExAC rs778842030
- TOPMed rs778842030
- gnomAD rs778842030
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.51
- CADD 18.90
- PolyPhen-2 0.18
- SIFT 0.33
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available