S84L (p.Ser84Leu) variant of FGFR3 (P22607)
S84L (p.Ser84Leu) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypochondroplasia; Muenke syndrome; Severe achondroplasia-developmental delay-ac. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S84L (p.Ser84Leu) variant details
- p.Ser84Leu
- rs121913116
- ClinGen CA341425
- ClinVar RCV000017769
- ClinVar RCV000850610
- Pathogenic/Likely pathogenic
- Hypochondroplasia; Muenke syndrome; Severe achondroplasia-developmental delay-ac
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- AlphaMissense 0.13
- MetaLR 0.15
- MetaSVM -0.59
- PolyPhen-2 0.89
- SIFT 0.02
- MutPred 0.75
- ClinVar: Pathogenic/Likely pathogenic (Hypochondroplasia; Muenke syndrome; Severe achondroplasia-develo)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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: Achondroplasia. (PMID 20301331)