H53R (p.His53Arg) variant of PTPRC (P08575)
H53R (p.His53Arg) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
H53R (p.His53Arg) variant details
- p.His53Arg
- rs1462459543
- gnomAD 1-198694021-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0856
- CADD 0.72
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available