A1129V (p.Ala1129Val) variant of SETD1B (Q9UPS6)
A1129V (p.Ala1129Val) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar and UniProt describe it as 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 0.27 / 1. The record also includes structural context.
A1129V (p.Ala1129Val) variant details
- p.Ala1129Val
- cosmic curated COSV57349
- Pathogenic
- Intellectual developmental disorder with seizures and language delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- ClinVar: Pathogenic (Intellectual developmental disorder with seizures and language d)
- UniProt: Pathogenic
- Structural context available