G22D (p.Gly22Asp) variant of SETD1B (Q9UPS6)
G22D (p.Gly22Asp) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G22D (p.Gly22Asp) variant details
- p.Gly22Asp
- gnomAD 12-121804802-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.94
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available