E26E (p.Glu26Glu) variant of SETD5 (Q9C0A6)
E26E (p.Glu26Glu) in SETD5 (Q9C0A6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E26E (p.Glu26Glu) variant details
- p.Glu26Glu
- rs1476120951
- gnomAD 3-9429666-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 21.10
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available
- Literature evidence available