S279C (p.Ser279Cys) variant of FGFR3 (P22607)
S279C (p.Ser279Cys) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FGFR3-related chondrodysplasia; not provided; Achondroplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
S279C (p.Ser279Cys) variant details
- p.Ser279Cys
- rs121913114
- ClinGen CA280224
- ClinVar RCV000017766
- ClinVar RCV000017767
- Pathogenic/Likely pathogenic
- FGFR3-related chondrodysplasia; not provided; Achondroplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- AlphaMissense 0.99
- MetaLR 0.64
- MetaSVM 0.54
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (FGFR3-related chondrodysplasia; not provided; Achondroplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or… (PMID 16912704)
- Cited in: Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a… (PMID 17895900)