G268C (p.Gly268Cys) variant of FGFR3 (P22607)
G268C (p.Gly268Cys) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hypochondroplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
G268C (p.Gly268Cys) variant details
- p.Gly268Cys
- rs2108783903
- ClinGen CA355976243
- ClinVar RCV002237238
- Ensembl rs2108783903
- Pathogenic/Likely pathogenic
- not provided; Hypochondroplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- AlphaMissense 0.86
- MetaLR 0.80
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypochondroplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available