N34S (p.Asn34Ser) variant of SMC3 (Q9UQE7)
N34S (p.Asn34Ser) 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.
N34S (p.Asn34Ser) variant details
- p.Asn34Ser
- gnomAD 10-110573716-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available