H8N (p.His8Asn) variant of SETD1B (Q9UPS6)
H8N (p.His8Asn) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
H8N (p.His8Asn) variant details
- p.His8Asn
- ExAC rs770426488
- TOPMed rs770426488
- gnomAD rs770426488
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.34
- ESM-1b 0.47
- AlphaMissense 0.12
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available