C54W (p.Cys54Trp) variant of CLDN14 (Claudin-14)
C54W (p.Cys54Trp) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
C54W (p.Cys54Trp) variant details
- p.Cys54Trp
- gnomAD 21-36461534-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.82
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available