E20A (p.Glu20Ala) variant of PTPRC (P08575)
E20A (p.Glu20Ala) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E20A (p.Glu20Ala) variant details
- p.Glu20Ala
- rs1384885724
- gnomAD 1-198694036-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 3.76
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available