D17E (p.Asp17Glu) variant of SETD2 (Q9BYW2)
D17E (p.Asp17Glu) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D17E (p.Asp17Glu) variant details
- p.Asp17Glu
- TOPMed rs1435832395
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.26
- AlphaMissense 0.10
- MetaLR 0.43
- MetaSVM -0.25
- CADD 23.90
- PolyPhen-2 0.66
- Population evidence available
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.129