R263Q (p.Arg263Gln) variant of PTPN22 (Q9Y2R2)
R263Q (p.Arg263Gln) in PTPN22 (Q9Y2R2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of PTPN22-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R263Q (p.Arg263Gln) variant details
- p.Arg263Gln
- rs33996649
- UniProt VAR 072630
- Benign
- PTPN22-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.20
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (PTPN22-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SARDINIAN population (allele frequency 0.074)
- Structural context available
- Cited in: A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. (PMID 18981062)
- Cited in: Differential association of two PTPN22 coding variants with Crohn's disease and ulcerative colitis. (PMID 21287672)