D48G (p.Asp48Gly) variant of PTPRC (P08575)
D48G (p.Asp48Gly) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
D48G (p.Asp48Gly) variant details
- p.Asp48Gly
- gnomAD 1-198696754-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.16
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available