D272E (p.Asp272Glu) variant of CACNA2D2 (Q9NY47)
D272E (p.Asp272Glu) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cerebellar atrophy with seizures and variable developmental delay. 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.
D272E (p.Asp272Glu) variant details
- p.Asp272Glu
- rs1441229685
- ClinGen CA352939068
- ClinVar RCV003993579
- Uncertain significance
- Cerebellar atrophy with seizures and variable developmental delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.27
- MetaLR 0.07
- MetaSVM -1.13
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cerebellar atrophy with seizures and variable developmental dela)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available