N90S (p.Asn90Ser) variant of SPTBN2 (O15020)
N90S (p.Asn90Ser) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
N90S (p.Asn90Ser) variant details
- p.Asn90Ser
- ExAC rs749591934
- TOPMed rs749591934
- gnomAD rs749591934
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.35
- CADD 22.40
- PolyPhen-2 0.09
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00012)