I196T (p.Ile196Thr) variant of SMC3 (Q9UQE7)
I196T (p.Ile196Thr) in SMC3 (Q9UQE7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cornelia de Lange syndrome 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
I196T (p.Ile196Thr) variant details
- p.Ile196Thr
- rs797045070
- ClinGen CA276168
- ClinVar RCV000191131
- ClinVar RCV004721289
- Pathogenic/Likely pathogenic
- Cornelia de Lange syndrome 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cornelia de Lange syndrome 3; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)