W77R (p.Trp77Arg) variant of SETD1B (Q9UPS6)
W77R (p.Trp77Arg) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
W77R (p.Trp77Arg) variant details
- p.Trp77Arg
- gnomAD 12-121805172-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 1.00
- CADD 26.30
- PolyPhen-2 0.95
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available