D108E (p.Asp108Glu) variant of BIN1 (O00499)
D108E (p.Asp108Glu) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D108E (p.Asp108Glu) variant details
- p.Asp108Glu
- TOPMed rs1218784993
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.20
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available