N134I (p.Asn134Ile) variant of SMC3 (Q9UQE7)
N134I (p.Asn134Ile) 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 1.00 / 1. The record also includes structural context.
N134I (p.Asn134Ile) variant details
- p.Asn134Ile
- rs2493107869
- ClinGen CA378373976
- ClinVar RCV003312176
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available