G8S (p.Gly8Ser) variant of SMARCA2 (P51531)
G8S (p.Gly8Ser) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- ExAC rs772087302
- gnomAD rs772087302
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.42
- AlphaMissense 0.12
- MetaLR 0.67
- MetaSVM 0.22
- CADD 23.50
- PolyPhen-2 0.56
- Population evidence available
- Structural context available