W1282C (p.Trp1282Cys) variant of CFTR (P13569)
W1282C (p.Trp1282Cys) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of CFTR-related disorder; Cystic fibrosis; Congenital bilateral aplasia of vas defe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
W1282C (p.Trp1282Cys) variant details
- p.Trp1282Cys
- rs77010898
- ClinGen CA4451556
- ClinVar RCV000734691
- ClinVar RCV001785716
- Conflicting interpretations
- CFTR-related disorder; Cystic fibrosis; Congenital bilateral aplasia of vas defe
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.78
- ESM-1b 0.51
- AlphaMissense 0.96
- MetaLR 0.80
- MetaSVM 0.74
- CADD 32.00
- ClinVar: Conflicting classifications of pathogenicity (CFTR-related disorder; Cystic fibrosis; Congenital bilateral apl)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)