D27E (p.Asp27Glu) variant of SHANK1 (Q9Y566)
D27E (p.Asp27Glu) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
D27E (p.Asp27Glu) variant details
- p.Asp27Glu
- ExAC rs779220124
- TOPMed rs779220124
- gnomAD rs779220124
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.01
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available