E29A (p.Glu29Ala) variant of SETD5 (Q9C0A6)
E29A (p.Glu29Ala) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E29A (p.Glu29Ala) variant details
- p.Glu29Ala
- gnomAD 3-9429838-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 21.70
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available