N18I (p.Asn18Ile) variant of SPTBN4 (Q9H254)
N18I (p.Asn18Ile) 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.
N18I (p.Asn18Ile) variant details
- p.Asn18Ile
- ExAC rs764202262
- gnomAD rs764202262
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.36
- Most common in the East Asian population (allele frequency 0.00019)