A56S (p.Ala56Ser) variant of PTPRC (P08575)
A56S (p.Ala56Ser) 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.
A56S (p.Ala56Ser) variant details
- p.Ala56Ser
- TOPMed rs1490524921
- gnomAD rs1490524921
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.14
- CADD 15.50
- PolyPhen-2 0.18
- SIFT 0.23
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available