M1R (p.Met1Arg) variant of IL7R (P16871)
M1R (p.Met1Arg) in IL7R (P16871) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Immunodeficiency 104; not provided; Severe combined immunodeficiency disease. The record also includes variant effect predictions, population frequency data, and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs200076125
- ClinGen CA3231813
- ClinVar RCV001219210
- ClinVar RCV004768927
- Likely pathogenic
- Immunodeficiency 104; not provided; Severe combined immunodeficiency disease
- Missense
- MetaLR 0.56
- MetaSVM 0.29
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Immunodeficiency 104; not provided; Severe combined immunodefici)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available