D86A (p.Asp86Ala) variant of SMC3 (Q9UQE7)
D86A (p.Asp86Ala) 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 0.73 / 1. The record also includes structural context.
D86A (p.Asp86Ala) variant details
- p.Asp86Ala
- rs1554882236
- ClinGen CA378371928
- ClinVar RCV000501814
- Ensembl rs1554882236
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.57
- MetaSVM 0.33
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available