P20L (p.Pro20Leu) variant of SETD1B (Q9UPS6)
P20L (p.Pro20Leu) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- TOPMed rs1281324968
- gnomAD rs1281324968
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 23.90
- PolyPhen-2 0.26
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available