S37G (p.Ser37Gly) variant of SPTBN2 (O15020)
S37G (p.Ser37Gly) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
S37G (p.Ser37Gly) variant details
- p.Ser37Gly
- ExAC rs760026876
- gnomAD rs760026876
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.08
- CADD 23.70
- PolyPhen-2 0.07
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)