S56N (p.Ser56Asn) variant of SETD1B (Q9UPS6)
S56N (p.Ser56Asn) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S56N (p.Ser56Asn) variant details
- p.Ser56Asn
- TOPMed rs1247959969
- gnomAD rs1247959969
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.54
- CADD 21.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available