V36L (p.Val36Leu) variant of CLDN14 (Claudin-14)
V36L (p.Val36Leu) in CLDN14 (Claudin-14) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
V36L (p.Val36Leu) variant details
- p.Val36Leu
- ESP rs142205038
- ExAC rs142205038
- TOPMed rs142205038
- gnomAD rs142205038
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.65
- CADD 23.30
- PolyPhen-2 0.77
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available