Y62C (p.Tyr62Cys) variant of CLDN14 (Claudin-14)
Y62C (p.Tyr62Cys) in CLDN14 (Claudin-14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Vein of Galen aneurysmal malformation; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Y62C (p.Tyr62Cys) variant details
- p.Tyr62Cys
- rs148223897
- ClinGen CA10019326
- ClinVar RCV000219015
- ClinVar RCV001594877
- Conflicting interpretations
- not provided; Vein of Galen aneurysmal malformation; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.74
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not provided; Vein of Galen aneurysmal malformation; not specifi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available