N18K (p.Asn18Lys) variant of SPTBN4 (Q9H254)
N18K (p.Asn18Lys) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
N18K (p.Asn18Lys) variant details
- p.Asn18Lys
- TOPMed rs1351773687
- gnomAD rs1351773687
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 22.00
- Most common in the African/African-American population (allele frequency 2.4e-05)