S47G (p.Ser47Gly) variant of SMARCA2 (P51531)
S47G (p.Ser47Gly) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S47G (p.Ser47Gly) variant details
- p.Ser47Gly
- ExAC rs775986079
- gnomAD rs775986079
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.40
- AlphaMissense 0.64
- MetaLR 0.79
- MetaSVM 0.64
- CADD 27.40
- PolyPhen-2 0.97
- Most common in the South Asian population (allele frequency 4.7e-05)
- Structural context available