V232D (p.Val232Asp) variant of CFTR (P13569)
V232D (p.Val232Asp) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V232D (p.Val232Asp) variant details
- p.Val232Asp
- rs397508783
- ClinGen CA327625
- ClinVar RCV000047235
- ClinVar RCV000732693
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.66
- MetaSVM 0.68
- CADD 24.60
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CBAVD)
- UniProt: Pathogenic (in CBAVD)
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available
- Cited in: Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation… (PMID 17329263)
- Cited in: Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene. (PMID 10066035)