R1792Q (p.Arg1792Gln) variant of SETD1B (Q9UPS6)
R1792Q (p.Arg1792Gln) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neurodevelopmental delay; not provided; Intellectual developmental disorder with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R1792Q (p.Arg1792Gln) variant details
- p.Arg1792Gln
- rs2137588997
- ClinGen CA387003226
- cosmic curated COSV10586
- ClinVar RCV002274370
- Pathogenic/Likely pathogenic
- Neurodevelopmental delay; not provided; Intellectual developmental disorder with
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.66
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental delay; not provided; Intellectual development)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: SETD1B-Related Neurodevelopmental Disorder. (PMID 36173874)