M152V (p.Met152Val) variant of CFTR (P13569)
M152V (p.Met152Val) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bronchiectasis with or without elevated sweat chloride 1; CFTR-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
M152V (p.Met152Val) variant details
- p.Met152Val
- rs397508721
- ClinGen CA327500
- ClinVar RCV000577102
- ClinVar RCV004566884
- Pathogenic/Likely pathogenic
- Bronchiectasis with or without elevated sweat chloride 1; CFTR-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.57
- MetaSVM -0.14
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Bronchiectasis with or without elevated sweat chloride 1; CFTR-r)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)
- Cited in: Standards and guidelines for CFTR mutation testing. (PMID 12394352)