A138V (p.Ala138Val) variant of CACNA2D2 (Q9NY47)
A138V (p.Ala138Val) 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 0.37 / 1. The record also includes population frequency data and structural context.
A138V (p.Ala138Val) variant details
- p.Ala138Val
- rs35497591
- ClinGen CA2419210
- ClinVar RCV001054057
- UniProt VAR 035048
- Uncertain significance
- Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.16
- MetaLR 0.03
- MetaSVM -1.05
- CADD 24.70
- PolyPhen-2 0.82
- SIFT 0.04
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy)
- EBI: Variant of uncertain significance (in dbSNP:rs35497591)
- UniProt: Uncertain significance (in dbSNP:rs35497591)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available