A42S (p.Ala42Ser) variant of SPTBN4 (Q9H254)
A42S (p.Ala42Ser) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A42S (p.Ala42Ser) variant details
- p.Ala42Ser
- 1000Genomes rs187123741
- ExAC rs187123741
- TOPMed rs187123741
- gnomAD rs187123741
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- CADD 1.11
- PolyPhen-2 0.12
- SIFT 1.00
- Population evidence available
- Structural context available