N20I (p.Asn20Ile) variant of SPTBN4 (Q9H254)
N20I (p.Asn20Ile) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
N20I (p.Asn20Ile) variant details
- p.Asn20Ile
- 1000Genomes rs199950227
- ExAC rs199950227
- TOPMed rs199950227
- gnomAD rs199950227
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)