D122Y (p.Asp122Tyr) variant of CACNA2D2 (Q9NY47)
D122Y (p.Asp122Tyr) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D122Y (p.Asp122Tyr) variant details
- p.Asp122Tyr
- rs552824990
- ClinGen CA2419247
- NCI-TCGA Cosmic COSV9981
- cosmic curated COSV99818
- Uncertain significance
- Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.34
- MetaLR 0.06
- MetaSVM -1.19
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.0099)
- Structural context available