S45L (p.Ser45Leu) variant of SPTBN4 (Q9H254)
S45L (p.Ser45Leu) in SPTBN4 (Q9H254) 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 0.77 / 1. The record also includes population frequency data and structural context.
S45L (p.Ser45Leu) variant details
- p.Ser45Leu
- rs1488394403
- TOPMed rs1488394403
- gnomAD rs1488394403
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 24.50
- PolyPhen-2 0.92
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available