R186W (p.Arg186Trp) variant of SMC3 (Q9UQE7)
R186W (p.Arg186Trp) in SMC3 (Q9UQE7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R186W (p.Arg186Trp) variant details
- p.Arg186Trp
- NCI-TCGA TCGA novel
- gnomAD rs1861037421
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.81
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available