R266W (p.Arg266Trp) variant of PTPN22 (Q9Y2R2)
R266W (p.Arg266Trp) in PTPN22 (Q9Y2R2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R266W (p.Arg266Trp) variant details
- p.Arg266Trp
- rs72650670
- UniProt VAR 072631
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.92
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Biochemical and functional studies of lymphoid-specific tyrosine phosphatase (Lyp) variants S201F and R266W. (PMID 22952725)