K181E (p.Lys181Glu) variant of ITPR2 (Q14571)
K181E (p.Lys181Glu) in ITPR2 (Q14571) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
K181E (p.Lys181Glu) variant details
- p.Lys181Glu
- rs1020261536
- ClinGen CA384330449
- ClinVar RCV001261394
- TOPMed rs1020261536
- Uncertain significance
- Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 0.77
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.61
- ClinVar: Uncertain significance (Intellectual disability)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)