S80N (p.Ser80Asn) variant of SPTA1 (P02549)
S80N (p.Ser80Asn) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
S80N (p.Ser80Asn) variant details
- p.Ser80Asn
- cosmic curated COSV10529
- 1000Genomes rs186235809
- ExAC rs186235809
- TOPMed rs186235809
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the REMAINING population (allele frequency 1.7e-05)