A46D (p.Ala46Asp) variant of CFTR (P13569)
A46D (p.Ala46Asp) in CFTR (P13569) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A46D (p.Ala46Asp) variant details
- p.Ala46Asp
- rs151020603
- ClinGen CA326462
- ClinVar RCV000046286
- 1000Genomes rs151020603
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.84
- MetaSVM 0.86
- CADD 25.80
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)