R93S (p.Arg93Ser) variant of SPTBN2 (O15020)
R93S (p.Arg93Ser) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
R93S (p.Arg93Ser) variant details
- p.Arg93Ser
- 1000Genomes rs191736279
- ExAC rs191736279
- TOPMed rs191736279
- gnomAD rs191736279
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.35
- CADD 18.80
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)