R16Q (p.Arg16Gln) variant of PTPN4 (P29074)
R16Q (p.Arg16Gln) in PTPN4 (P29074) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- rs866186886
- NCI-TCGA Cosmic COSV5530
- TOPMed rs866186886
- gnomAD rs866186886
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.56
- MetaSVM 0.04
- CADD 30.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available