R50E (p.Arg50Glu) variant of SETD5 (Q9C0A6)
R50E (p.Arg50Glu) in SETD5 (Q9C0A6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R50E (p.Arg50Glu) variant details
- p.Arg50Glu
- gnomAD 3-9429925-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 18.80
- Population evidence available
- Structural context available
- Literature evidence available