N38K (p.Asn38Lys) variant of PTPN4 (P29074)
N38K (p.Asn38Lys) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N38K (p.Asn38Lys) variant details
- p.Asn38Lys
- gnomAD 2-119809967-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.35
- MetaLR 0.33
- MetaSVM -0.58
- CADD 19.98
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available