R22Q (p.Arg22Gln) variant of FGFR2 (P21802)
R22Q (p.Arg22Gln) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of FGFR2-related craniosynostosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- rs189010277
- NCI-TCGA Cosmic COSV6064
- cosmic curated COSV60646
- 1000Genomes rs189010277
- Uncertain significance
- FGFR2-related craniosynostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.45
- CADD 26.10
- PolyPhen-2 0.39
- SIFT 0.05
- ClinVar: Uncertain significance (FGFR2-related craniosynostosis)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available