D44G (p.Asp44Gly) variant of CFTR (P13569)
D44G (p.Asp44Gly) in CFTR (P13569) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CF. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
D44G (p.Asp44Gly) variant details
- p.Asp44Gly
- rs1800074
- ClinGen CA326451
- ClinVar RCV000577104
- UniProt VAR 000105
- Pathogenic
- in CF
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- ESM-1b 1.00
- AlphaMissense 0.54
- MetaLR 0.84
- MetaSVM 0.85
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Structural context available
- Cited in: Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis… (PMID 1379210)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)