P64Q (p.Pro64Gln) variant of SETD1B (Q9UPS6)
P64Q (p.Pro64Gln) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
P64Q (p.Pro64Gln) variant details
- p.Pro64Gln
- gnomAD 12-121805134-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.82
- ESM-1b 0.00
- AlphaMissense 0.94
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available