C115S (p.Cys115Ser) variant of SPTBN2 (O15020)
C115S (p.Cys115Ser) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
C115S (p.Cys115Ser) variant details
- p.Cys115Ser
- TOPMed rs1942088325
- gnomAD rs1942088325
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.45
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)