Q12H (p.Gln12His) variant of SETD1B (Q9UPS6)
Q12H (p.Gln12His) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Q12H (p.Gln12His) variant details
- p.Gln12His
- Ensembl rs1875640725
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 23.30
- PolyPhen-2 0.23
- SIFT 0.01
- Population evidence available
- Structural context available