L47M (p.Leu47Met) variant of CLDN14 (Claudin-14)
L47M (p.Leu47Met) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L47M (p.Leu47Met) variant details
- p.Leu47Met
- gnomAD 21-36461557-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.25
- CADD 15.30
- PolyPhen-2 0.02
- SIFT 0.85
- Population evidence available
- Structural context available
- Literature evidence available