E128K (p.Glu128Lys) variant of SPTBN2 (O15020)
E128K (p.Glu128Lys) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
E128K (p.Glu128Lys) variant details
- p.Glu128Lys
- ExAC rs777128229
- TOPMed rs777128229
- gnomAD rs777128229
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.63
- CADD 26.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)