I23V (p.Ile23Val) variant of CFTR (P13569)
I23V (p.Ile23Val) 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 0.41 / 1. The record also includes published literature and structural context.
I23V (p.Ile23Val) variant details
- p.Ile23Val
- rs1798377413
- ClinGen CA368986878
- ClinVar RCV001278576
- Ensembl rs1798377413
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.59
- MetaSVM 0.24
- PolyPhen-2 0.47
- SIFT 0.03
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)