H12T (p.His12Thr) variant of SMARCA2 (P51531)
H12T (p.His12Thr) in SMARCA2 (P51531) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
H12T (p.His12Thr) variant details
- p.His12Thr
- gnomAD 9-2029052-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 26.20
- Population evidence available
- Structural context available
- Literature evidence available