Q13H (p.Gln13His) variant of SETD1B (Q9UPS6)
Q13H (p.Gln13His) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q13H (p.Gln13His) variant details
- p.Gln13His
- gnomAD 12-121804776-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 24.80
- PolyPhen-2 0.55
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available