C76R (p.Cys76Arg) variant of SPTBN2 (O15020)
C76R (p.Cys76Arg) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
C76R (p.Cys76Arg) variant details
- p.Cys76Arg
- ExAC rs780472257
- gnomAD rs780472257
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.58
- CADD 26.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)