D44V (p.Asp44Val) variant of CFTR (P13569)
D44V (p.Asp44Val) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cystic fibrosis; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
D44V (p.Asp44Val) variant details
- p.Asp44Val
- rs1800074
- ClinGen CA4450645
- ClinVar RCV002875913
- UniProt VAR 000106
- Uncertain significance
- Cystic fibrosis; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.54
- MetaLR 0.84
- MetaSVM 0.85
- CADD 26.70
- ClinVar: Uncertain significance (Cystic fibrosis; not specified)
- EBI: Pathogenic (in dbSNP:rs1800074)
- UniProt: Pathogenic (in dbSNP:rs1800074)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)