D26N (p.Asp26Asn) variant of PTPN11 (Q06124)
D26N (p.Asp26Asn) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D26N (p.Asp26Asn) variant details
- p.Asp26Asn
- ExAC rs750261927
- gnomAD rs750261927
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.39
- MetaLR 0.65
- MetaSVM 0.19
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.11
- ClinVar: Uncertain significance (RASopathy)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available