Q17H (p.Gln17His) variant of SETD1B (Q9UPS6)
Q17H (p.Gln17His) 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.
Q17H (p.Gln17His) variant details
- p.Gln17His
- gnomAD 12-121804788-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.40
- CADD 26.00
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available