M1V (p.Met1Val) variant of SH2B3 (SH2B adapter protein 3)
M1V (p.Met1Val) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary familial polycythemia due to EPO receptor mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs376261237
- ClinGen CA6789591
- ClinVar RCV002250348
- Pathogenic
- Primary familial polycythemia due to EPO receptor mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- ESM-1b 1.00
- AlphaMissense 0.27
- MetaLR 0.10
- MetaSVM -0.98
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Pathogenic (Primary familial polycythemia due to EPO receptor mutation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: Primary Familial and Congenital Erythrocytosis. (PMID 27831681)