P28L (p.Pro28Leu) variant of CLDN14 (Claudin-14)
P28L (p.Pro28Leu) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- rs727504989
- ClinGen CA184779
- cosmic curated COSV59777
- ClinVar RCV000156406
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.82
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available