T38N (p.Thr38Asn) variant of CLDN14 (Claudin-14)
T38N (p.Thr38Asn) in CLDN14 (Claudin-14) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
T38N (p.Thr38Asn) variant details
- p.Thr38Asn
- TOPMed rs1401609630
- gnomAD rs1401609630
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.29
- CADD 22.60
- PolyPhen-2 0.31
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available