P49R (p.Pro49Arg) variant of CACNA2D2 (Q9NY47)
P49R (p.Pro49Arg) 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 0.17 / 1. The record also includes population frequency data and structural context.
P49R (p.Pro49Arg) variant details
- p.Pro49Arg
- rs951683514
- ClinGen CA353000286
- ClinVar RCV006560436
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.91
- CADD 12.10
- PolyPhen-2 0.02
- SIFT 0.40
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.4e-05)
- Structural context available