P6L (p.Pro6Leu) variant of SETD1B (Q9UPS6)
P6L (p.Pro6Leu) in SETD1B (Q9UPS6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- 1000Genomes rs553235589
- ExAC rs553235589
- TOPMed rs553235589
- gnomAD rs553235589
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available