P28Q (p.Pro28Gln) variant of CLDN14 (Claudin-14)
P28Q (p.Pro28Gln) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
P28Q (p.Pro28Gln) variant details
- p.Pro28Gln
- gnomAD 21-36461613-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.84
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available