H66N (p.His66Asn) variant of SMC3 (Q9UQE7)
H66N (p.His66Asn) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
H66N (p.His66Asn) variant details
- p.His66Asn
- gnomAD 10-110575401-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available