A346S (p.Ala346Ser) variant of SMC1A (Q14683)
A346S (p.Ala346Ser) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A346S (p.Ala346Ser) variant details
- p.Ala346Ser
- ExAC rs782111343
- TOPMed rs782111343
- gnomAD rs782111343
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.24
- ESM-1b 0.65
- AlphaMissense 0.10
- MetaLR 0.32
- MetaSVM -0.65
- CADD 17.50
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available