P6H (p.Pro6His) variant of SETD1B (Q9UPS6)
P6H (p.Pro6His) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of SETD1B-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P6H (p.Pro6His) variant details
- p.Pro6His
- 1000Genomes rs553235589
- ExAC rs553235589
- TOPMed rs553235589
- gnomAD rs553235589
- Likely benign
- SETD1B-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.80
- PolyPhen-2 0.48
- SIFT 0.00
- ClinVar: Likely benign (SETD1B-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.035)
- Structural context available