S45W (p.Ser45Trp) variant of SPTBN4 (Q9H254)
S45W (p.Ser45Trp) in SPTBN4 (Q9H254) is a missense change. 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.
S45W (p.Ser45Trp) variant details
- p.Ser45Trp
- TOPMed rs1488394403
- gnomAD rs1488394403
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available