C54Y (p.Cys54Tyr) variant of CLDN14 (Claudin-14)
C54Y (p.Cys54Tyr) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
C54Y (p.Cys54Tyr) variant details
- p.Cys54Tyr
- gnomAD 21-36461535-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.96
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available