S3L (p.Ser3Leu) variant of BAK1 (Q16611)
S3L (p.Ser3Leu) in BAK1 (Q16611) 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 0.47 / 1. The record also includes population frequency data and structural context.
S3L (p.Ser3Leu) variant details
- p.Ser3Leu
- rs531594065
- 1000Genomes rs531594065
- ExAC rs531594065
- TOPMed rs531594065
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.24
- CADD 27.80
- PolyPhen-2 0.71
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available