D979V (p.Asp979Val) variant of CFTR (P13569)
D979V (p.Asp979Val) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes population frequency data, published literature, and structural context.
D979V (p.Asp979Val) variant details
- p.Asp979Val
- rs397508462
- ClinGen CA326979
- ClinVar RCV000577309
- ClinVar RCV001009520
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)