A46V (p.Ala46Val) variant of CFTR (P13569)
A46V (p.Ala46Val) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Congenital bilateral aplasia of vas deferens from CFTR mutation; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- rs151020603
- ClinGen CA4450646
- ClinVar RCV000728272
- ClinVar RCV000757789
- Uncertain significance
- not provided; Congenital bilateral aplasia of vas deferens from CFTR mutation; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.72
- MetaLR 0.77
- MetaSVM 0.52
- CADD 26.70
- ClinVar: Uncertain significance (not provided; Congenital bilateral aplasia of vas deferens from)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)