S80I (p.Ser80Ile) variant of SPTA1 (P02549)
S80I (p.Ser80Ile) in SPTA1 (P02549) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
S80I (p.Ser80Ile) variant details
- p.Ser80Ile
- rs186235809
- 1000Genomes rs186235809
- ExAC rs186235809
- TOPMed rs186235809
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 22.80
- PolyPhen-2 0.78
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)