V55A (p.Val55Ala) variant of CLDN14 (Claudin-14)
V55A (p.Val55Ala) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
V55A (p.Val55Ala) variant details
- p.Val55Ala
- ExAC rs752960573
- gnomAD rs752960573
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.68
- CADD 22.50
- PolyPhen-2 0.49
- SIFT 0.78
- Population evidence available
- Structural context available