Y371C (p.Tyr371Cys) variant of CACNA2D2 (Q9NY47)
Y371C (p.Tyr371Cys) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Y371C (p.Tyr371Cys) variant details
- p.Tyr371Cys
- rs1705182962
- UniProt VAR 085040
- Ensembl rs1705182962
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.88
- MetaLR 0.70
- MetaSVM 0.54
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent… (PMID 33798445)