D92Y (p.Asp92Tyr) variant of SMC3 (Q9UQE7)
D92Y (p.Asp92Tyr) in SMC3 (Q9UQE7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
D92Y (p.Asp92Tyr) variant details
- p.Asp92Tyr
- rs1554882266
- ClinGen CA378372335
- ClinVar RCV000501682
- Ensembl rs1554882266
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.54
- MetaSVM 0.14
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available