E53K (p.Glu53Lys) variant of CLDN14 (Claudin-14)
E53K (p.Glu53Lys) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E53K (p.Glu53Lys) variant details
- p.Glu53Lys
- gnomAD 21-36461539-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.77
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available