I37L (p.Ile37Leu) variant of CFTR (P13569)
I37L (p.Ile37Leu) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
I37L (p.Ile37Leu) variant details
- p.Ile37Leu
- rs759721412
- ClinGen CA368987185
- ClinVar RCV003187774
- ClinGen CA164963639
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.55
- MetaSVM 0.01
- CADD 15.30
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- 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)