E33D (p.Glu33Asp) variant of SPTBN4 (Q9H254)
E33D (p.Glu33Asp) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E33D (p.Glu33Asp) variant details
- p.Glu33Asp
- gnomAD 19-40472720-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- MetaLR 0.08
- MetaSVM -0.93
- CADD 8.96
- PolyPhen-2 0.00
- SIFT 0.91
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available