L8H (p.Leu8His) variant of CLDN14 (Claudin-14)
L8H (p.Leu8His) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L8H (p.Leu8His) variant details
- p.Leu8His
- gnomAD 21-36461673-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.97
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available