Q5H (p.Gln5His) variant of SETD2 (Q9BYW2)
Q5H (p.Gln5His) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q5H (p.Gln5His) variant details
- p.Gln5His
- TOPMed rs1697587118
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.24
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the South Asian population (allele frequency 7.2e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.0662