H20Y (p.His20Tyr) variant of SETD2 (Q9BYW2)
H20Y (p.His20Tyr) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H20Y (p.His20Tyr) variant details
- p.His20Tyr
- Ensembl rs2106868390
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.29
- CADD 23.50
- PolyPhen-2 0.93
- SIFT 0.30
- Population evidence available
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.331