A9V (p.Ala9Val) variant of CFTR (P13569)
A9V (p.Ala9Val) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- rs949472192
- ClinGen CA164948916
- ClinVar RCV000755917
- ClinVar RCV001825489
- Conflicting interpretations
- Cystic fibrosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.88
- ESM-1b 0.30
- AlphaMissense 0.75
- MetaLR 0.93
- MetaSVM 1.05
- CADD 32.00
- ClinVar: Conflicting classifications of pathogenicity (Cystic fibrosis; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- 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)