K4R (p.Lys4Arg) variant of SMC3 (Q9UQE7)
K4R (p.Lys4Arg) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
K4R (p.Lys4Arg) variant details
- p.Lys4Arg
- TOPMed rs890348077
- gnomAD rs890348077
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 29.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available