K47K (p.Lys47Lys) variant of PTPN4 (P29074)
K47K (p.Lys47Lys) in PTPN4 (P29074) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K47K (p.Lys47Lys) variant details
- p.Lys47Lys
- gnomAD 2-119862538-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 17.00
- Population evidence available
- Structural context available
- Literature evidence available