S201F (p.Ser201Phe) variant of PTPN22 (Q9Y2R2)
S201F (p.Ser201Phe) in PTPN22 (Q9Y2R2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and published literature.
S201F (p.Ser201Phe) variant details
- p.Ser201Phe
- rs7416347
- UniProt VAR 072629
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.67
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 4.2e-05)
- Cited in: Biochemical and functional studies of lymphoid-specific tyrosine phosphatase (Lyp) variants S201F and R266W. (PMID 22952725)