A42T (p.Ala42Thr) variant of SPTBN4 (Q9H254)
A42T (p.Ala42Thr) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- 1000Genomes rs187123741
- ExAC rs187123741
- TOPMed rs187123741
- gnomAD rs187123741
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 7.52
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available