Q348R (p.Gln348Arg) variant of SMC1A (Q14683)
Q348R (p.Gln348Arg) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q348R (p.Gln348Arg) variant details
- p.Gln348Arg
- gnomAD rs1556890595
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.15
- MetaSVM -0.87
- CADD 16.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00016)
- Structural context available