E109Q (p.Glu109Gln) variant of SHANK1 (Q9Y566)
E109Q (p.Glu109Gln) in SHANK1 (Q9Y566) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E109Q (p.Glu109Gln) variant details
- p.Glu109Gln
- NCI-TCGA Cosmic COSV9952
- cosmic curated COSV99520
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.12
- MetaLR 0.03
- MetaSVM -1.06
- CADD 21.00
- PolyPhen-2 0.39
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available