E24G (p.Glu24Gly) variant of SETD2 (Q9BYW2)
E24G (p.Glu24Gly) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E24G (p.Glu24Gly) variant details
- p.Glu24Gly
- TOPMed rs1181685588
- gnomAD rs1181685588
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.28
- CADD 25.80
- PolyPhen-2 0.73
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.336