E28D (p.Glu28Asp) variant of PTPN4 (P29074)
E28D (p.Glu28Asp) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- gnomAD rs1691549211
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.22
- ESM-1b 0.54
- AlphaMissense 0.11
- MetaLR 0.30
- MetaSVM -0.72
- CADD 19.88
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available