A56P (p.Ala56Pro) variant of PTPRC (P08575)
A56P (p.Ala56Pro) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A56P (p.Ala56Pro) variant details
- p.Ala56Pro
- gnomAD 1-198696777-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.13
- CADD 23.30
- PolyPhen-2 0.90
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available