P250R (p.Pro250Arg) variant of FGFR3 (P22607)
P250R (p.Pro250Arg) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Achondroplasia; Craniosynostosis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P250R (p.Pro250Arg) variant details
- p.Pro250Arg
- rs4647924
- ClinGen CA159700
- cosmic curated COSV10807
- ClinVar RCV000017746
- Pathogenic
- not provided; Achondroplasia; Craniosynostosis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.77
- CADD 22.00
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in MNKS)
- UniProt: Pathogenic (in MNKS)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen… (PMID 10094188)
- Cited in: Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a… (PMID 11424131)