D58N (p.Asp58Asn) variant of CFTR (P13569)
D58N (p.Asp58Asn) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital bilateral aplasia of vas deferens from CFTR mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
D58N (p.Asp58Asn) variant details
- p.Asp58Asn
- rs397508285
- ClinGen CA326636
- NCI-TCGA Cosmic COSV5006
- ClinVar RCV000577317
- Likely pathogenic
- Congenital bilateral aplasia of vas deferens from CFTR mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.77
- ESM-1b 0.00
- AlphaMissense 0.47
- MetaLR 0.86
- MetaSVM 0.87
- CADD 27.50
- ClinVar: Likely pathogenic (Congenital bilateral aplasia of vas deferens from CFTR mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)