P253R (p.Pro253Arg) variant of FGFR2 (P21802)
P253R (p.Pro253Arg) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FGFR2-related craniosynostosis; Jackson-Weiss syndrome; Saethre-Chotzen syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
P253R (p.Pro253Arg) variant details
- p.Pro253Arg
- rs77543610
- ClinGen CA280174
- cosmic curated COSV60644
- ClinVar RCV000014193
- Pathogenic/Likely pathogenic
- FGFR2-related craniosynostosis; Jackson-Weiss syndrome; Saethre-Chotzen syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- AlphaMissense 0.98
- MetaLR 0.60
- MetaSVM 0.28
- PolyPhen-2 0.21
- SIFT 0.00
- EVE 0.18
- ClinVar: Pathogenic/Likely pathogenic (FGFR2-related craniosynostosis; Jackson-Weiss syndrome; Saethre-)
- EBI: Pathogenic (in APRS)
- UniProt: Pathogenic (in APRS)
- Structural context available
- Cited in: Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. (PMID 11390973)
- Cited in: Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with… (PMID 11781872)