Q485R (p.Gln485Arg) variant of FGFR3 (P22607)
Q485R (p.Gln485Arg) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FGFR3-related chondrodysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Q485R (p.Gln485Arg) variant details
- p.Gln485Arg
- rs267606808
- ClinVar RCV000017771
- Ensembl rs267606808
- Uncertain significance
- FGFR3-related chondrodysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.88
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (FGFR3-related chondrodysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Cited in: Thanatophoric dysplasia caused by double missense FGFR3 mutations. (PMID 19449430)
- Cited in: Thanatophoric Dysplasia. (PMID 20301540)