P28Q (p.Pro28Gln) variant of PTPRC (P08575)
P28Q (p.Pro28Gln) in PTPRC (P08575) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P28Q (p.Pro28Gln) variant details
- p.Pro28Gln
- gnomAD 1-198692353-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0856
- CADD 0.71
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available