N18D (p.Asn18Asp) variant of PTPN11 (Q06124)
N18D (p.Asn18Asp) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
N18D (p.Asn18Asp) variant details
- p.Asn18Asp
- ExAC rs776089364
- gnomAD rs776089364
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.31
- MetaLR 0.35
- MetaSVM -0.53
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available