D614G (p.Asp614Gly) variant of CFTR (P13569)
D614G (p.Asp614Gly) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
D614G (p.Asp614Gly) variant details
- p.Asp614Gly
- rs201124247
- ClinGen CA326700
- ClinVar RCV000577786
- ClinVar RCV001004275
- Pathogenic/Likely pathogenic
- CFTR-related disorder; Cystic fibrosis; Congenital bilateral aplasia of vas defe
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.41
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (CFTR-related disorder; Cystic fibrosis; Congenital bilateral apl)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis… (PMID 9736778)
- Cited in: Cystic Fibrosis. (PMID 20301428)