E20D (p.Glu20Asp) variant of PTPRC (P08575)
E20D (p.Glu20Asp) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- gnomAD 1-198639328-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0629
- REVEL 0.02
- CADD 6.61
- PolyPhen-2 0.01
- SIFT 0.65
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available