L15H (p.Leu15His) variant of CFTR (P13569)
L15H (p.Leu15His) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Congenital bilateral aplasia of vas deferens from CFTR mutation; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
L15H (p.Leu15His) variant details
- p.Leu15His
- rs1562876459
- ClinGen CA368981335
- ClinVar RCV002290339
- ClinVar RCV003507405
- Conflicting interpretations
- Congenital bilateral aplasia of vas deferens from CFTR mutation; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.79
- MetaSVM 0.73
- PolyPhen-2 0.57
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Congenital bilateral aplasia of vas deferens from CFTR mutation;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)