M3I (p.Met3Ile) variant of PTPRC (P08575)
M3I (p.Met3Ile) in PTPRC (P08575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 104. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
M3I (p.Met3Ile) variant details
- p.Met3Ile
- rs1662439770
- ClinGen CA344097961
- ClinVar RCV001970474
- TOPMed rs1662439770
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.27
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available