R159* (p.Arg159Ter) variant of SPTBN2 (O15020)
R159* (p.Arg159Ter) in SPTBN2 (O15020) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R159* (p.Arg159Ter) variant details
- p.Arg159Ter
- cosmic curated COSV59450
- ExAC rs755976699
- TOPMed rs755976699
- gnomAD rs755976699
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 37.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available