E96K (p.Glu96Lys) variant of SPTBN2 (O15020)
E96K (p.Glu96Lys) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
E96K (p.Glu96Lys) variant details
- p.Glu96Lys
- Ensembl rs986153925
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.78
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)