Q323R (p.Gln323Arg) variant of SMC1A (Q14683)
Q323R (p.Gln323Arg) 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 structural context.
Q323R (p.Gln323Arg) variant details
- p.Gln323Arg
- Ensembl rs1602413015
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- ESM-1b 1.00
- AlphaMissense 0.13
- Structural context available