D18E (p.Asp18Glu) variant of SETD5 (Q9C0A6)
D18E (p.Asp18Glu) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
D18E (p.Asp18Glu) variant details
- p.Asp18Glu
- gnomAD 3-9429858-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available