Q7H (p.Gln7His) variant of SETD2 (Q9BYW2)
Q7H (p.Gln7His) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q7H (p.Gln7His) variant details
- p.Gln7His
- Ensembl rs2106868637
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.26
- CADD 21.40
- PolyPhen-2 0.10
- SIFT 0.11
- Population evidence available
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.155