A648T (p.Ala648Thr) variant of FGFR2 (P21802)
A648T (p.Ala648Thr) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR2-related craniosynostosis; not provided; Levy-Hollister syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A648T (p.Ala648Thr) variant details
- p.Ala648Thr
- rs121918508
- ClinGen CA122998
- NCI-TCGA Cosmic COSV6065
- cosmic curated COSV60650
- Pathogenic
- FGFR2-related craniosynostosis; not provided; Levy-Hollister syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.88
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (FGFR2-related craniosynostosis; not provided; Levy-Hollister syn)
- EBI: Pathogenic (in LADD1)
- UniProt: Pathogenic (in LADD1)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Mutations in different components of FGF signaling in LADD syndrome. (PMID 16501574)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)