Q52R (p.Gln52Arg) variant of PTPN4 (P29074)
Q52R (p.Gln52Arg) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Q52R (p.Gln52Arg) variant details
- p.Gln52Arg
- TOPMed rs1025735746
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.72
- ESM-1b 0.69
- AlphaMissense 0.08
- MetaLR 0.44
- MetaSVM -0.09
- CADD 24.80
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available