S2Y (p.Ser2Tyr) variant of SMARCA2 (P51531)
S2Y (p.Ser2Tyr) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S2Y (p.Ser2Tyr) variant details
- p.Ser2Tyr
- gnomAD 9-2029027-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.49
- AlphaMissense 0.79
- MetaLR 0.69
- MetaSVM 0.51
- CADD 26.90
- PolyPhen-2 0.89
- Population evidence available
- Structural context available
- Literature evidence available