S24N (p.Ser24Asn) variant of SMC3 (Q9UQE7)
S24N (p.Ser24Asn) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S24N (p.Ser24Asn) variant details
- p.Ser24Asn
- ExAC rs780355125
- gnomAD rs780355125
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.30
- ESM-1b 0.96
- AlphaMissense 0.70
- CADD 25.00
- PolyPhen-2 0.95
- SIFT 0.16
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available