N20S (p.Asn20Ser) variant of SPTBN4 (Q9H254)
N20S (p.Asn20Ser) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
N20S (p.Asn20Ser) variant details
- p.Asn20Ser
- 1000Genomes rs199950227
- ExAC rs199950227
- TOPMed rs199950227
- gnomAD rs199950227
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 22.80
- PolyPhen-2 0.93
- SIFT 0.08
- Most common in the 1KG:YRI population (allele frequency 0.0043)