G49E (p.Gly49Glu) variant of CLDN14 (Claudin-14)
G49E (p.Gly49Glu) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G49E (p.Gly49Glu) variant details
- p.Gly49Glu
- TOPMed rs1347733089
- gnomAD rs1347733089
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.85
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available