H12D (p.His12Asp) variant of SMARCA2 (P51531)
H12D (p.His12Asp) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
H12D (p.His12Asp) variant details
- p.His12Asp
- gnomAD 9-2029056-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.49
- AlphaMissense 0.84
- MetaLR 0.53
- MetaSVM -0.17
- CADD 23.50
- PolyPhen-2 0.19
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available