D80N (p.Asp80Asn) variant of SPTBN2 (O15020)
D80N (p.Asp80Asn) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D80N (p.Asp80Asn) variant details
- p.Asp80Asn
- ExAC rs762677201
- TOPMed rs762677201
- gnomAD rs762677201
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.43
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available