E11K (p.Glu11Lys) variant of SHANK1 (Q9Y566)
E11K (p.Glu11Lys) 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 0.42 / 1. The record also includes population frequency data and structural context.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- NCI-TCGA Cosmic COSV5324
- cosmic curated COSV53244
- NCI-TCGA Cosmic COSV5326
- TOPMed rs2089076990
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.21
- MetaLR 0.16
- MetaSVM -0.83
- CADD 27.40
- PolyPhen-2 0.96
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3e-05)
- Structural context available