N39D (p.Asn39Asp) variant of CLDN14 (Claudin-14)
N39D (p.Asn39Asp) in CLDN14 (Claudin-14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
N39D (p.Asn39Asp) variant details
- p.Asn39Asp
- gnomAD 21-36461581-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.71
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available