H35Q (p.His35Gln) variant of CLDN14 (Claudin-14)
H35Q (p.His35Gln) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H35Q (p.His35Gln) variant details
- p.His35Gln
- gnomAD 21-36461591-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.61
- CADD 20.00
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available