E21K (p.Glu21Lys) variant of SHANK1 (Q9Y566)
E21K (p.Glu21Lys) in SHANK1 (Q9Y566) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- cosmic curated COSV53259
- ESP rs372307194
- ExAC rs372307194
- TOPMed rs372307194
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.11
- MetaLR 0.06
- MetaSVM -1.05
- CADD 23.10
- PolyPhen-2 0.20
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 9.6e-05)
- Structural context available