G697S (p.Gly697Ser) variant of FGFR3 (P22607)
G697S (p.Gly697Ser) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Malignant tumor of urinary bladder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
G697S (p.Gly697Ser) variant details
- p.Gly697Ser
- rs121913480
- ClinGen CA355983663
- cosmic curated COSV53400
- ClinVar RCV003332979
- Pathogenic
- Malignant tumor of urinary bladder
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- AlphaMissense 0.99
- MetaLR 0.54
- MetaSVM 0.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Malignant tumor of urinary bladder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available