R22W (p.Arg22Trp) variant of FGFR2 (P21802)
R22W (p.Arg22Trp) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Levy-Hollister syndrome; Bent bone dysplasia syndrome 1; Gastric cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R22W (p.Arg22Trp) variant details
- p.Arg22Trp
- rs377570596
- ClinGen CA5721245
- cosmic curated COSV60659
- ClinVar RCV001514574
- Benign/Likely benign
- Levy-Hollister syndrome; Bent bone dysplasia syndrome 1; Gastric cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.59
- CADD 26.70
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Benign/Likely benign (Levy-Hollister syndrome; Bent bone dysplasia syndrome 1; Gastric)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)
- Cited in: Apert Syndrome. (PMID 31145570)