R30K (p.Arg30Lys) variant of SETD1B (Q9UPS6)
R30K (p.Arg30Lys) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual developmental disorder with seizures and language delay. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R30K (p.Arg30Lys) variant details
- p.Arg30Lys
- rs752819288
- ClinGen CA6838739
- ClinVar RCV002310612
- ExAC rs752819288
- Uncertain significance
- Intellectual developmental disorder with seizures and language delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.51
- CADD 24.10
- PolyPhen-2 0.80
- SIFT 0.22
- ClinVar: Uncertain significance (Intellectual developmental disorder with seizures and language d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: SETD1B-Related Neurodevelopmental Disorder. (PMID 36173874)