D66E (p.Asp66Glu) variant of SHANK1 (Q9Y566)
D66E (p.Asp66Glu) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
D66E (p.Asp66Glu) variant details
- p.Asp66Glu
- 1000Genomes rs545121253
- ExAC rs545121253
- TOPMed rs545121253
- gnomAD rs545121253
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -0.99
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available