G52E (p.Gly52Glu) variant of SETD5 (Q9C0A6)
G52E (p.Gly52Glu) 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 and structural context.
G52E (p.Gly52Glu) variant details
- p.Gly52Glu
- ExAC rs752204608
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 20.60
- Most common in the Latino/Admixed American population (allele frequency 3.9e-05)
- Structural context available