Y50F (p.Tyr50Phe) variant of SETD1B (Q9UPS6)
Y50F (p.Tyr50Phe) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Y50F (p.Tyr50Phe) variant details
- p.Tyr50Phe
- TOPMed rs1015335173
- gnomAD rs1015335173
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.62
- CADD 24.50
- PolyPhen-2 0.40
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available