K170R (p.Lys170Arg) variant of SMC1A (Q14683)
K170R (p.Lys170Arg) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
K170R (p.Lys170Arg) variant details
- p.Lys170Arg
- TOPMed rs1468174097
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.06
- Structural context available