E104G (p.Glu104Gly) variant of SMC1A (Q14683)
E104G (p.Glu104Gly) in SMC1A (Q14683) 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 0.71 / 1. The record also includes structural context.
E104G (p.Glu104Gly) variant details
- p.Glu104Gly
- rs1556891059
- ClinGen CA413131844
- ClinVar RCV000498677
- Ensembl rs1556891059
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.49
- MetaSVM 0.33
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available