N101S (p.Asn101Ser) variant of CACNA2D2 (Q9NY47)
N101S (p.Asn101Ser) 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.
N101S (p.Asn101Ser) variant details
- p.Asn101Ser
- rs2471148568
- ClinGen CA353001277
- ClinVar RCV006560622
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.08
- MetaLR 0.02
- MetaSVM -0.99
- CADD 21.30
- PolyPhen-2 0.28
- SIFT 0.02
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available