V43I (p.Val43Ile) variant of CFTR (P13569)
V43I (p.Val43Ile) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cystic fibrosis; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V43I (p.Val43Ile) variant details
- p.Val43Ile
- rs370586917
- ClinGen CA4450642
- ClinVar RCV001002488
- ClinVar RCV001161751
- Conflicting interpretations
- not provided; Cystic fibrosis; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.34
- MetaSVM -0.81
- CADD 7.84
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cystic fibrosis; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)