S47L (p.Ser47Leu) variant of PTPRC (P08575)
S47L (p.Ser47Leu) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S47L (p.Ser47Leu) variant details
- p.Ser47Leu
- rs1321359193
- gnomAD 1-198694057-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 3.12
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available