R57S (p.Arg57Ser) variant of SMC3 (Q9UQE7)
R57S (p.Arg57Ser) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R57S (p.Arg57Ser) variant details
- p.Arg57Ser
- gnomAD 10-110575374-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 28.00
- PolyPhen-2 0.95
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available