S54N (p.Ser54Asn) variant of SMC3 (Q9UQE7)
S54N (p.Ser54Asn) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S54N (p.Ser54Asn) variant details
- p.Ser54Asn
- gnomAD rs1473519917
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.50
- CADD 22.90
- PolyPhen-2 0.11
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available