S30N (p.Ser30Asn) variant of SMARCA2 (P51531)
S30N (p.Ser30Asn) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S30N (p.Ser30Asn) variant details
- p.Ser30Asn
- TOPMed rs1818953876
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.43
- AlphaMissense 0.86
- MetaLR 0.70
- MetaSVM 0.51
- CADD 23.20
- PolyPhen-2 0.98
- Population evidence available
- Structural context available