Q17P (p.Gln17Pro) variant of SETD1B (Q9UPS6)
Q17P (p.Gln17Pro) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q17P (p.Gln17Pro) variant details
- p.Gln17Pro
- gnomAD 12-121804787-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 26.40
- PolyPhen-2 0.81
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available