R6Q (p.Arg6Gln) variant of PTPN4 (P29074)
R6Q (p.Arg6Gln) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R6Q (p.Arg6Gln) variant details
- p.Arg6Gln
- ESP rs144223649
- ExAC rs144223649
- TOPMed rs144223649
- gnomAD rs144223649
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.46
- MetaSVM 0.00
- CADD 31.00
- Most common in the African/African-American population (allele frequency 7.4e-05)
- Structural context available