G34E (p.Gly34Glu) variant of PTPRC (P08575)
G34E (p.Gly34Glu) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G34E (p.Gly34Glu) variant details
- p.Gly34Glu
- ExAC rs753850217
- TOPMed rs753850217
- gnomAD rs753850217
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.08
- CADD 23.50
- PolyPhen-2 0.57
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available