S24R (p.Ser24Arg) variant of SMC3 (Q9UQE7)
S24R (p.Ser24Arg) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S24R (p.Ser24Arg) variant details
- p.Ser24Arg
- TOPMed rs1860825918
- gnomAD rs1860825918
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available