H12P (p.His12Pro) variant of SMARCA2 (P51531)
H12P (p.His12Pro) 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.
H12P (p.His12Pro) variant details
- p.His12Pro
- gnomAD 9-2029052-GCC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 27.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available