S54Y (p.Ser54Tyr) variant of SMARCA2 (P51531)
S54Y (p.Ser54Tyr) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S54Y (p.Ser54Tyr) variant details
- p.Ser54Tyr
- gnomAD 9-2029183-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.18
- AlphaMissense 0.35
- MetaLR 0.39
- MetaSVM -0.51
- CADD 21.10
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- Literature evidence available