G382C (p.Gly382Cys) variant of FGFR3 (P22607)
G382C (p.Gly382Cys) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypochondroplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G382C (p.Gly382Cys) variant details
- p.Gly382Cys
- Ensembl rs1360936268
- Likely pathogenic
- Hypochondroplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.69
- AlphaMissense 0.10
- MetaLR 0.75
- MetaSVM 0.58
- CADD 26.40
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Hypochondroplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available