K44Q (p.Lys44Gln) variant of PTPN4 (P29074)
K44Q (p.Lys44Gln) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K44Q (p.Lys44Gln) variant details
- p.Lys44Gln
- gnomAD 2-119809983-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.28
- MetaSVM -0.70
- CADD 24.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available