E344Q (p.Glu344Gln) variant of SMC1A (Q14683)
E344Q (p.Glu344Gln) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
E344Q (p.Glu344Gln) variant details
- p.Glu344Gln
- ESP rs375853850
- ExAC rs375853850
- TOPMed rs375853850
- gnomAD rs375853850
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.62
- MetaSVM 0.34
- CADD 24.80
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available