S351F (p.Ser351Phe) variant of FGFR3 (P22607)
S351F (p.Ser351Phe) 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; FGFR3-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
S351F (p.Ser351Phe) variant details
- p.Ser351Phe
- rs1057517964
- ClinGen CA355978481
- cosmic curated COSV53420
- ClinVar RCV001775150
- Pathogenic/Likely pathogenic
- Hypochondroplasia; FGFR3-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- AlphaMissense 0.86
- MetaLR 0.47
- MetaSVM 0.03
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic/Likely pathogenic (Hypochondroplasia; FGFR3-related disorder; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hypochondroplasia. (PMID 20301650)