L1047P (p.Leu1047Pro) variant of CACNA2D2 (Q9NY47)
L1047P (p.Leu1047Pro) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cerebellar atrophy with seizures and variable developmental delay. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
L1047P (p.Leu1047Pro) variant details
- p.Leu1047Pro
- rs587776948
- ClinGen CA130795
- ClinVar RCV001804159
- UniProt VAR 083106
- Pathogenic
- Cerebellar atrophy with seizures and variable developmental delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.99
- MetaLR 0.26
- MetaSVM -0.58
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.87
- ClinVar: Pathogenic (Cerebellar atrophy with seizures and variable developmental dela)
- EBI: Pathogenic (in CASVDD)
- UniProt: Pathogenic (in CASVDD)
- Structural context available
- Cited in: Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. (PMID 18487195)
- Cited in: Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. (PMID 23339110)