A34E (p.Ala34Glu) variant of CLDN14 (Claudin-14)
A34E (p.Ala34Glu) in CLDN14 (Claudin-14) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
A34E (p.Ala34Glu) variant details
- p.Ala34Glu
- ExAC rs754032374
- TOPMed rs754032374
- gnomAD rs754032374
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.76
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available