G382S (p.Gly382Ser) variant of FGFR3 (P22607)
G382S (p.Gly382Ser) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Achondroplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
G382S (p.Gly382Ser) variant details
- p.Gly382Ser
- rs1360936268
- ClinGen CA355979038
- ClinVar RCV001806350
- Ensembl rs1360936268
- Likely pathogenic
- Achondroplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- AlphaMissense 0.10
- MetaLR 0.75
- MetaSVM 0.58
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.27
- ClinVar: Likely pathogenic (Achondroplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Achondroplasia. (PMID 20301331)