D32E (p.Asp32Glu) variant of SPTBN2 (O15020)
D32E (p.Asp32Glu) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
D32E (p.Asp32Glu) variant details
- p.Asp32Glu
- TOPMed rs1942382845
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.06
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)