T420M (p.Thr420Met) variant of CACNA2D2 (Q9NY47)
T420M (p.Thr420Met) 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 0.44 / 1. The record also includes population frequency data and structural context.
T420M (p.Thr420Met) variant details
- p.Thr420Met
- rs781210506
- ClinGen CA74615280
- NCI-TCGA Cosmic COSV9981
- cosmic curated COSV99818
- Uncertain significance
- Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.30
- MetaLR 0.07
- MetaSVM -1.10
- CADD 33.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available