E48G (p.Glu48Gly) variant of SPTBN4 (Q9H254)
E48G (p.Glu48Gly) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E48G (p.Glu48Gly) variant details
- p.Glu48Gly
- gnomAD 19-40472764-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- MetaLR 0.69
- MetaSVM 0.51
- CADD 27.80
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available