A50G (p.Ala50Gly) variant of SETD2 (Q9BYW2)
A50G (p.Ala50Gly) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A50G (p.Ala50Gly) variant details
- p.Ala50Gly
- TOPMed rs2043246649
- gnomAD rs2043246649
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.29
- CADD 25.00
- PolyPhen-2 0.76
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available