G35D (p.Gly35Asp) variant of SMC1A (Q14683)
G35D (p.Gly35Asp) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G35D (p.Gly35Asp) variant details
- p.Gly35Asp
- 1000Genomes rs200998508
- ExAC rs200998508
- gnomAD rs200998508
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- CADD 28.30
- Most common in the 1KG:CEU population (allele frequency 0.0056)
- Structural context available