E15K (p.Glu15Lys) variant of CTNNB1 (Catenin beta-1)
E15K (p.Glu15Lys) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe intellectual disability-progressive spastic diplegia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- rs1575315288
- ClinGen CA352228024
- cosmic curated COSV62704
- ClinVar RCV000786916
- Uncertain significance
- Severe intellectual disability-progressive spastic diplegia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- AlphaMissense 0.92
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 0.11
- SIFT 0.07
- EVE 0.12
- ClinVar: Uncertain significance (Severe intellectual disability-progressive spastic diplegia synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CTNNB1 Neurodevelopmental Disorder. (PMID 35593792)