D48V (p.Asp48Val) variant of PTPRC (P08575)
D48V (p.Asp48Val) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
D48V (p.Asp48Val) variant details
- p.Asp48Val
- TOPMed rs1666222634
- gnomAD rs1666222634
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.24
- CADD 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available