E204V (p.Glu204Val) variant of SMC1A (Q14683)
E204V (p.Glu204Val) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E204V (p.Glu204Val) variant details
- p.Glu204Val
- TOPMed rs1287375497
- gnomAD rs1287375497
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.33
- MetaSVM -0.46
- CADD 28.10
- Most common in the Ashkenazi Jewish population (allele frequency 0.00038)
- Structural context available