L54F (p.Leu54Phe) variant of PTPN4 (P29074)
L54F (p.Leu54Phe) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- gnomAD 2-119862559-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.57
- MetaLR 0.67
- MetaSVM 0.18
- CADD 18.98
- Population evidence available
- Structural context available
- Literature evidence available