Q50K (p.Gln50Lys) variant of PTPN4 (P29074)
Q50K (p.Gln50Lys) 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.
Q50K (p.Gln50Lys) variant details
- p.Gln50Lys
- TOPMed rs756846077
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.11
- MetaSVM -0.81
- CADD 21.80
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available