H12Q (p.His12Gln) variant of SMARCA2 (P51531)
H12Q (p.His12Gln) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
H12Q (p.His12Gln) variant details
- p.His12Gln
- gnomAD 9-2029058-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.49
- AlphaMissense 0.54
- MetaLR 0.42
- MetaSVM -0.60
- CADD 13.80
- PolyPhen-2 0.36
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available