R100K (p.Arg100Lys) variant of SMC3 (Q9UQE7)
R100K (p.Arg100Lys) in SMC3 (Q9UQE7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
R100K (p.Arg100Lys) variant details
- p.Arg100Lys
- rs2134719390
- ClinGen CA378372530
- ClinVar RCV002252374
- Ensembl rs2134719390
- Uncertain significance
- See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.63
- MetaSVM 0.36
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (See cases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available