R621H (p.Arg621His) variant of FGFR3 (P22607)
R621H (p.Arg621His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R621H (p.Arg621His) variant details
- p.Arg621His
- rs121913113
- ClinGen CA126386
- cosmic curated COSV53404
- ClinVar RCV000017765
- Pathogenic/Likely pathogenic
- FGFR3-related chondrodysplasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.89
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.81
- CADD 29.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (FGFR3-related chondrodysplasia; not provided)
- EBI: Pathogenic (in CATSHLS)
- UniProt: Pathogenic (in CATSHLS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. (PMID 17033969)