P15L (p.Pro15Leu) variant of SETD1B (Q9UPS6)
P15L (p.Pro15Leu) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance 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.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- ExAC rs759783691
- TOPMed rs759783691
- gnomAD rs759783691
- Uncertain significance
- SETD1B-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (SETD1B-related disorder)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available