Q224* (p.Gln224Ter) variant of SMC1A (Q14683)
Q224* (p.Gln224Ter) in SMC1A (Q14683) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
Q224* (p.Gln224Ter) variant details
- p.Gln224Ter
- gnomAD X-53380726-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.73
- MetaLR 0.54
- MetaSVM 0.16
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available