G22C (p.Gly22Cys) variant of SETD1B (Q9UPS6)
G22C (p.Gly22Cys) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G22C (p.Gly22Cys) variant details
- p.Gly22Cys
- gnomAD 12-121804801-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.48
- ESM-1b 0.31
- AlphaMissense 0.55
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available