P253F (p.Pro253Phe) variant of FGFR2 (P21802)
P253F (p.Pro253Phe) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Acrocephalosyndactyly type I. The record also includes published literature and structural context.
P253F (p.Pro253Phe) variant details
- p.Pro253Phe
- rs387907372
- ClinGen CA280311
- ClinVar RCV000049281
- Ensembl rs387907372
- Pathogenic
- Acrocephalosyndactyly type I
- Missense
- ClinVar: Pathogenic (Acrocephalosyndactyly type I)
- EBI: Pathogenic (in APRS)
- UniProt: Pathogenic (in APRS)
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)
- Cited in: Apert Syndrome. (PMID 31145570)