G27D (p.Gly27Asp) variant of CFTR (P13569)
G27D (p.Gly27Asp) in CFTR (P13569) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G27D (p.Gly27Asp) variant details
- p.Gly27Asp
- rs397508798
- gnomAD 7-117504277-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 30.00
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available
- Cited in: Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing… (PMID 11379874)