M40I (p.Met40Ile) variant of PTPRC (P08575)
M40I (p.Met40Ile) 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 0.04 / 1. The record also includes population frequency data and structural context.
M40I (p.Met40Ile) variant details
- p.Met40Ile
- rs1571844516
- ClinGen CA344096721
- ClinVar RCV000818463
- Ensembl rs1571844516
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.0447
- REVEL 0.04
- CADD 0.39
- PolyPhen-2 0.01
- SIFT 0.16
- 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