V73F (p.Val73Phe) variant of SETD1B (Q9UPS6)
V73F (p.Val73Phe) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V73F (p.Val73Phe) variant details
- p.Val73Phe
- gnomAD 12-121805160-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.58
- ESM-1b 0.93
- AlphaMissense 0.79
- CADD 23.90
- PolyPhen-2 0.79
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available