A50V (p.Ala50Val) variant of SETD2 (Q9BYW2)
A50V (p.Ala50Val) 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 and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- TOPMed rs2043246649
- gnomAD rs2043246649
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.31
- CADD 25.10
- PolyPhen-2 0.63
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available