L32M (p.Leu32Met) variant of CFTR (P13569)
L32M (p.Leu32Met) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L32M (p.Leu32Met) variant details
- p.Leu32Met
- rs776797377
- ClinGen CA4450635
- ClinVar RCV000598321
- ClinVar RCV000670047
- Conflicting interpretations
- not provided; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.33
- MetaLR 0.87
- MetaSVM 0.89
- CADD 23.70
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 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)