E109D (p.Glu109Asp) variant of SHANK1 (Q9Y566)
E109D (p.Glu109Asp) 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.
E109D (p.Glu109Asp) variant details
- p.Glu109Asp
- TOPMed rs1431321665
- gnomAD rs1431321665
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.10
- MetaLR 0.06
- MetaSVM -1.11
- CADD 24.10
- PolyPhen-2 0.60
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available