G27V (p.Gly27Val) variant of CFTR (P13569)
G27V (p.Gly27Val) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
G27V (p.Gly27Val) variant details
- p.Gly27Val
- rs397508797
- ClinGen CA368986987
- ClinVar RCV000589825
- Ensembl rs397508797
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available