T52I (p.Thr52Ile) variant of PTPRC (P08575)
T52I (p.Thr52Ile) in PTPRC (P08575) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
T52I (p.Thr52Ile) variant details
- p.Thr52Ile
- rs1558004385
- gnomAD 1-198696765-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 24.60
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available