S20G (p.Ser20Gly) variant of SPTBN2 (O15020)
S20G (p.Ser20Gly) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
S20G (p.Ser20Gly) variant details
- p.Ser20Gly
- ExAC rs781276338
- gnomAD rs781276338
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.15
- CADD 24.70
- PolyPhen-2 0.54
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)