H10Q (p.His10Gln) variant of SETD1B (Q9UPS6)
H10Q (p.His10Gln) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H10Q (p.His10Gln) variant details
- p.His10Gln
- cosmic curated COSV11397
- 1000Genomes rs763848081
- TOPMed rs763848081
- gnomAD rs763848081
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 20.50
- PolyPhen-2 0.03
- SIFT 0.09
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available