H12Y (p.His12Tyr) variant of SMARCA2 (P51531)
H12Y (p.His12Tyr) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
H12Y (p.His12Tyr) variant details
- p.His12Tyr
- gnomAD 9-2029056-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.42
- AlphaMissense 0.36
- MetaLR 0.52
- MetaSVM 0.11
- CADD 23.30
- PolyPhen-2 0.78
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available