S47P (p.Ser47Pro) variant of PTPRC (P08575)
S47P (p.Ser47Pro) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S47P (p.Ser47Pro) variant details
- p.Ser47Pro
- rs1666071661
- gnomAD 1-198694056-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 2.81
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available