E126D (p.Glu126Asp) variant of STAT6 (P42226)
E126D (p.Glu126Asp) in STAT6 (P42226) is a missense change. Clinical records from ClinVar 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 0.24 / 1. The record also includes population frequency data and structural context.
E126D (p.Glu126Asp) variant details
- p.Glu126Asp
- ExAC rs769710616
- TOPMed rs769710616
- gnomAD rs769710616
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.15
- CADD 22.80
- PolyPhen-2 0.23
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available