V524M (p.Val524Met) variant of CACNA2D2 (Q9NY47)
V524M (p.Val524Met) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Cerebellar atrophy with seizures and variable developme. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V524M (p.Val524Met) variant details
- p.Val524Met
- rs758052476
- ClinGen CA2418809
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56564
- Uncertain significance
- Inborn genetic diseases; Cerebellar atrophy with seizures and variable developme
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.52
- AlphaMissense 0.92
- MetaLR 0.28
- MetaSVM -0.18
- CADD 27.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Cerebellar atrophy with seizures and va)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)