S18L (p.Ser18Leu) variant of PTPN4 (P29074)
S18L (p.Ser18Leu) in PTPN4 (P29074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S18L (p.Ser18Leu) variant details
- p.Ser18Leu
- ESP rs146543517
- ExAC rs146543517
- gnomAD rs146543517
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.34
- MetaSVM -0.63
- CADD 25.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available