G83D (p.Gly83Asp) variant of ATP6V1A (P38606)
G83D (p.Gly83Asp) in ATP6V1A (P38606) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy 93. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
G83D (p.Gly83Asp) variant details
- p.Gly83Asp
- rs1709013687
- ClinGen CA354007210
- ClinVar RCV002227693
- Ensembl rs1709013687
- Uncertain significance
- Developmental and epileptic encephalopathy 93
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.77
- CADD 29.90
- PolyPhen-2 0.75
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy 93)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available