D49L (p.Asp49Leu) variant of PTPN4 (P29074)
D49L (p.Asp49Leu) in PTPN4 (P29074) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
D49L (p.Asp49Leu) variant details
- p.Asp49Leu
- gnomAD 2-119862540-A-ATT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.686
- CADD 29.10
- Population evidence available
- Structural context available
- Literature evidence available