A50D (p.Ala50Asp) variant of SETD2 (Q9BYW2)
A50D (p.Ala50Asp) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A50D (p.Ala50Asp) variant details
- p.Ala50Asp
- TOPMed rs2043246649
- gnomAD rs2043246649
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.41
- CADD 25.50
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available