T4A (p.Thr4Ala) variant of CLDN14 (Claudin-14)
T4A (p.Thr4Ala) in CLDN14 (Claudin-14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
T4A (p.Thr4Ala) variant details
- p.Thr4Ala
- ESP rs374578221
- ExAC rs374578221
- TOPMed rs374578221
- gnomAD rs374578221
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.08
- CADD 13.80
- PolyPhen-2 0.02
- SIFT 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs113831133)
- UniProt: Uncertain significance (in dbSNP:rs113831133)
- Population evidence available
- Structural context available