G17S (p.Gly17Ser) variant of CLDN14 (Claudin-14)
G17S (p.Gly17Ser) in CLDN14 (Claudin-14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- rs1270823192
- ClinGen CA409885092
- ClinVar RCV001375234
- TOPMed rs1270823192
- Uncertain significance
- Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.95
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Alport syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available