V53L (p.Val53Leu) variant of PTPN4 (P29074)
V53L (p.Val53Leu) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V53L (p.Val53Leu) variant details
- p.Val53Leu
- gnomAD rs1415308829
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.37
- ESM-1b 0.66
- AlphaMissense 0.12
- MetaLR 0.39
- MetaSVM -0.51
- CADD 21.70
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available