C76G (p.Cys76Gly) variant of SPTBN2 (O15020)
C76G (p.Cys76Gly) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
C76G (p.Cys76Gly) variant details
- p.Cys76Gly
- ExAC rs780472257
- gnomAD rs780472257
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.52
- CADD 26.80
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)