R102Q (p.Arg102Gln) variant of CACNA2D2 (Q9NY47)
R102Q (p.Arg102Gln) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R102Q (p.Arg102Gln) variant details
- p.Arg102Gln
- rs376677841
- ClinGen CA2419258
- cosmic curated COSV56560
- ClinVar RCV006468370
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.98
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available