K44R (p.Lys44Arg) variant of PTPN4 (P29074)
K44R (p.Lys44Arg) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K44R (p.Lys44Arg) variant details
- p.Lys44Arg
- gnomAD 2-119809984-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.22
- MetaSVM -0.91
- CADD 18.94
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available