Y625C (p.Tyr625Cys) variant of CACNA2D2 (Q9NY47)
Y625C (p.Tyr625Cys) 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; Developmental and epileptic encephalopathy; Cerebellar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
Y625C (p.Tyr625Cys) variant details
- p.Tyr625Cys
- rs780181502
- ClinGen CA2418691
- NCI-TCGA Cosmic COSV9981
- cosmic curated COSV99817
- Uncertain significance
- Inborn genetic diseases; Developmental and epileptic encephalopathy; Cerebellar
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.92
- MetaLR 0.70
- MetaSVM 0.52
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Developmental and epileptic encephalopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- 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)