D49V (p.Asp49Val) variant of PTPN4 (P29074)
D49V (p.Asp49Val) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D49V (p.Asp49Val) variant details
- p.Asp49Val
- gnomAD 2-119862543-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.57
- ESM-1b 0.55
- AlphaMissense 0.26
- MetaLR 0.35
- MetaSVM -0.52
- CADD 24.60
- Population evidence available
- Structural context available
- Literature evidence available