P28S (p.Pro28Ser) variant of SPTBN4 (Q9H254)
P28S (p.Pro28Ser) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- ESP rs140771992
- TOPMed rs140771992
- gnomAD rs140771992
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 21.00
- PolyPhen-2 0.98
- SIFT 0.68
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available