A42P (p.Ala42Pro) variant of SPTBN4 (Q9H254)
A42P (p.Ala42Pro) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A42P (p.Ala42Pro) variant details
- p.Ala42Pro
- 1000Genomes rs187123741
- ExAC rs187123741
- TOPMed rs187123741
- gnomAD rs187123741
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 18.70
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available