G13D (p.Gly13Asp) variant of PTPRC (P08575)
G13D (p.Gly13Asp) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- gnomAD rs1426202766
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.19
- CADD 23.50
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available