K105E (p.Lys105Glu) variant of SMC3 (Q9UQE7)
K105E (p.Lys105Glu) in SMC3 (Q9UQE7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
K105E (p.Lys105Glu) variant details
- p.Lys105Glu
- rs2134719396
- ClinGen CA378372629
- ClinVar RCV001768829
- Ensembl rs2134719396
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available