R22Q (p.Arg22Gln) variant of PTPN4 (P29074)
R22Q (p.Arg22Gln) in PTPN4 (P29074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- rs200544847
- ESP rs200544847
- ExAC rs200544847
- TOPMed rs200544847
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.53
- MetaSVM 0.03
- CADD 25.70
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available