R159G (p.Arg159Gly) variant of SPTBN2 (O15020)
R159G (p.Arg159Gly) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R159G (p.Arg159Gly) variant details
- p.Arg159Gly
- ExAC rs755976699
- TOPMed rs755976699
- gnomAD rs755976699
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.77
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available