V160M (p.Val160Met) variant of CACNA2D2 (Q9NY47)
V160M (p.Val160Met) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Early-infantile DEE; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V160M (p.Val160Met) variant details
- p.Val160Met
- rs779423998
- ClinGen CA2419171
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56565
- Conflicting interpretations
- Early-infantile DEE; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.18
- MetaLR 0.02
- MetaSVM -0.96
- CADD 4.30
- PolyPhen-2 0.62
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- 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)