L47M (p.Leu47Met) variant of SETD1B (Q9UPS6)
L47M (p.Leu47Met) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L47M (p.Leu47Met) variant details
- p.Leu47Met
- cosmic curated COSV57354
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available