S18G (p.Ser18Gly) variant of CFTR (P13569)
S18G (p.Ser18Gly) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S18G (p.Ser18Gly) variant details
- p.Ser18Gly
- rs748599579
- ClinGen CA4450606
- ClinVar RCV003317766
- ClinVar RCV003618068
- Uncertain significance
- not specified; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.71
- MetaSVM 0.23
- CADD 24.40
- ClinVar: Uncertain significance (not specified; Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)