D57N (p.Asp57Asn) variant of SPTBN4 (Q9H254)
D57N (p.Asp57Asn) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D57N (p.Asp57Asn) variant details
- p.Asp57Asn
- gnomAD 19-40472790-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- MetaLR 0.43
- MetaSVM -0.14
- CADD 36.00
- PolyPhen-2 0.97
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available