E117G (p.Glu117Gly) variant of SPTBN2 (O15020)
E117G (p.Glu117Gly) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
E117G (p.Glu117Gly) variant details
- p.Glu117Gly
- gnomAD rs1942088032
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.63
- CADD 33.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)