D112A (p.Asp112Ala) variant of SMC3 (Q9UQE7)
D112A (p.Asp112Ala) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
D112A (p.Asp112Ala) variant details
- p.Asp112Ala
- ExAC rs774721996
- gnomAD rs774721996
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 28.30
- PolyPhen-2 0.67
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available