P18L (p.Pro18Leu) variant of SETD1B (Q9UPS6)
P18L (p.Pro18Leu) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- gnomAD 12-121804790-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.35
- ESM-1b 0.15
- AlphaMissense 0.29
- CADD 24.00
- PolyPhen-2 0.38
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available