N134S (p.Asn134Ser) variant of SMC3 (Q9UQE7)
N134S (p.Asn134Ser) in SMC3 (Q9UQE7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
N134S (p.Asn134Ser) variant details
- p.Asn134Ser
- rs2493107869
- ClinGen CA378373969
- ClinVar RCV003441520
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- ESM-1b 1.00
- AlphaMissense 0.85
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available