A39G (p.Ala39Gly) variant of SETD1B (Q9UPS6)
A39G (p.Ala39Gly) in SETD1B (Q9UPS6) 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, published literature, and structural context.
A39G (p.Ala39Gly) variant details
- p.Ala39Gly
- gnomAD 12-121804853-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.91
- CADD 24.60
- PolyPhen-2 0.94
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available