V43A (p.Val43Ala) variant of CFTR (P13569)
V43A (p.Val43Ala) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cystic fibrosis; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V43A (p.Val43Ala) variant details
- p.Val43Ala
- rs754657555
- ClinGen CA4450644
- ClinVar RCV002383289
- ClinVar RCV003331359
- Conflicting interpretations
- Cystic fibrosis; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.25
- MetaSVM -0.85
- CADD 6.90
- ClinVar: Conflicting classifications of pathogenicity (Cystic fibrosis; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)
- Cited in: Standards and guidelines for CFTR mutation testing. (PMID 12394352)