G70C (p.Gly70Cys) variant of SMC3 (Q9UQE7)
G70C (p.Gly70Cys) 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.
G70C (p.Gly70Cys) variant details
- p.Gly70Cys
- gnomAD 10-110577430-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available