E36K (p.Glu36Lys) variant of SETD5 (Q9C0A6)
E36K (p.Glu36Lys) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- gnomAD 3-9429897-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 21.10
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available