R57C (p.Arg57Cys) variant of SMC3 (Q9UQE7)
R57C (p.Arg57Cys) 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 0.88 / 1. The record also includes population frequency data and structural context.
R57C (p.Arg57Cys) variant details
- p.Arg57Cys
- rs771561635
- NCI-TCGA Cosmic COSV6242
- ExAC rs771561635
- gnomAD rs771561635
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available