R86Q (p.Arg86Gln) variant of SPTBN2 (O15020)
R86Q (p.Arg86Gln) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
R86Q (p.Arg86Gln) variant details
- p.Arg86Gln
- ExAC rs770888940
- TOPMed rs770888940
- gnomAD rs770888940
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.36
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)