I574V (p.Ile574Val) variant of ASXL1 (Polycomb group protein ASXL1)
I574V (p.Ile574Val) in ASXL1 (Polycomb group protein ASXL1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bohring-Opitz syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature.
I574V (p.Ile574Val) variant details
- p.Ile574Val
- rs2011649912
- ClinGen CA408557741
- ClinVar RCV002275470
- Ensembl rs2011649912
- Pathogenic
- Bohring-Opitz syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.92
- MetaLR 0.36
- MetaSVM -0.39
- PolyPhen-2 0.99
- SIFT 0.03
- MutPred 0.20
- ClinVar: Pathogenic (Bohring-Opitz syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. (PMID 30158690)
- Cited in: Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies. (PMID 31692235)