N145R (p.Asn145Arg) variant of SMC3 (Q9UQE7)
N145R (p.Asn145Arg) in SMC3 (Q9UQE7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
N145R (p.Asn145Arg) variant details
- p.Asn145Arg
- rs2493110995
- ClinGen CA2580616897
- ClinVar RCV003314959
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.994
- ESM-1b 1.00
- AlphaMissense 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available