M1I (p.Met1Ile) variant of PTPRC (P08575)
M1I (p.Met1Ile) in PTPRC (P08575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Immunodeficiency 104. The record also includes variant effect predictions, population frequency data, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs759182888
- ClinGen CA36176090
- ClinVar RCV001975549
- ClinVar RCV003987949
- Uncertain significance
- not specified; Immunodeficiency 104
- Missense
- MetaLR 0.01
- MetaSVM -0.90
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available