D979A (p.Asp979Ala) variant of CFTR (P13569)
D979A (p.Asp979Ala) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
D979A (p.Asp979Ala) variant details
- p.Asp979Ala
- rs397508462
- ClinGen CA326977
- ClinVar RCV000577756
- ClinVar RCV000586469
- Conflicting interpretations
- CFTR-related disorder; Cystic fibrosis; Congenital bilateral aplasia of vas defe
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- CADD 28.60
- ClinVar: Conflicting classifications of pathogenicity (CFTR-related disorder; Cystic fibrosis; Congenital bilateral apl)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)