Q3E (p.Gln3Glu) variant of SETD2 (Q9BYW2)
Q3E (p.Gln3Glu) in SETD2 (Q9BYW2) 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 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q3E (p.Gln3Glu) variant details
- p.Gln3Glu
- TOPMed rs1410684482
- gnomAD rs1410684482
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.28
- AlphaMissense 0.14
- MetaLR 0.35
- MetaSVM -0.61
- CADD 21.70
- PolyPhen-2 0.73
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score 0.335