L1053P (p.Leu1053Pro) variant of CACNA2D2 (Q9NY47)
L1053P (p.Leu1053Pro) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L1053P (p.Leu1053Pro) variant details
- p.Leu1053Pro
- rs1575578837
- ClinGen CA352900737
- ClinVar RCV000789005
- UniProt VAR 083107
- Pathogenic
- Cerebellar atrophy with seizures and variable developmental delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- AlphaMissense 1.00
- MetaLR 0.24
- MetaSVM -0.71
- PolyPhen-2 0.14
- SIFT 0.00
- MutPred 0.80
- ClinVar: Pathogenic (Cerebellar atrophy with seizures and variable developmental dela)
- EBI: Pathogenic (in CASVDD)
- UniProt: Pathogenic (in CASVDD)
- Population evidence available
- Structural context available
- Cited in: Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants. (PMID 30410802)
- Cited in: Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. (PMID 23339110)