V129G (p.Val129Gly) variant of SETD1B (Q9UPS6)
V129G (p.Val129Gly) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual developmental disorder with seizures and language delay. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
V129G (p.Val129Gly) variant details
- p.Val129Gly
- rs2137544259
- ClinGen CA386987946
- ClinVar RCV001374426
- Ensembl rs2137544259
- Likely pathogenic
- Intellectual developmental disorder with seizures and language delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.47
- MetaSVM 0.22
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Intellectual developmental disorder with seizures and language d)
- EBI: Pathogenic (in IDDSELD)
- UniProt: Pathogenic (in IDDSELD)
- Structural context available
- Cited in: De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic… (PMID 31440728)
- Cited in: SETD1B-Related Neurodevelopmental Disorder. (PMID 36173874)