T42K (p.Thr42Lys) variant of CLDN14 (Claudin-14)
T42K (p.Thr42Lys) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T42K (p.Thr42Lys) variant details
- p.Thr42Lys
- gnomAD 21-36461571-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.89
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available