L16M (p.Leu16Met) variant of CLDN14 (Claudin-14)
L16M (p.Leu16Met) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L16M (p.Leu16Met) variant details
- p.Leu16Met
- gnomAD 21-36461650-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.52
- CADD 23.20
- PolyPhen-2 0.70
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available