D57G (p.Asp57Gly) variant of SPTBN4 (Q9H254)
D57G (p.Asp57Gly) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
D57G (p.Asp57Gly) variant details
- p.Asp57Gly
- gnomAD 19-40487697-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- MetaLR 0.40
- MetaSVM -0.16
- CADD 32.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available