R4C (p.Arg4Cys) variant of PTPN4 (P29074)
R4C (p.Arg4Cys) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R4C (p.Arg4Cys) variant details
- p.Arg4Cys
- ESP rs372066860
- ExAC rs372066860
- TOPMed rs372066860
- gnomAD rs372066860
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.69
- MetaSVM 0.42
- CADD 33.00
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available