L64W (p.Leu64Trp) variant of PTPN4 (P29074)
L64W (p.Leu64Trp) in PTPN4 (P29074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
L64W (p.Leu64Trp) variant details
- p.Leu64Trp
- rs1677776998
- ClinGen CA348185321
- ClinVar RCV001267875
- Ensembl rs1677776998
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.80
- MetaSVM 0.86
- CADD 27.10
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available