R620W (p.Arg620Trp) variant of PTPN22 (Q9Y2R2)
R620W (p.Arg620Trp) in PTPN22 (Q9Y2R2) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of probable protective factor against Crohn disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature.
R620W (p.Arg620Trp) variant details
- p.Arg620Trp
- rs2476601
- UniProt VAR 022605
- Benign
- probable protective factor against Crohn disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- AlphaMissense 0.02
- MetaLR 0.00
- MetaSVM -0.91
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.37
- EBI: Benign (probable protective factor against Crohn disease)
- UniProt: Benign (probable protective factor against Crohn disease)
- Cited in: A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. (PMID 15004560)
- Cited in: A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with… (PMID 15208781)