A386G (p.Ala386Gly) variant of SMC1A (Q14683)
A386G (p.Ala386Gly) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A386G (p.Ala386Gly) variant details
- p.Ala386Gly
- ExAC rs782473597
- gnomAD rs782473597
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.56
- MetaLR 0.33
- MetaSVM -0.54
- CADD 23.60
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available