R57H (p.Arg57His) variant of SMC3 (Q9UQE7)
R57H (p.Arg57His) 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 0.77 / 1. The record also includes structural context.
R57H (p.Arg57His) variant details
- p.Arg57His
- rs1564788385
- Ensembl rs1564788385
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.67
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available