G73D (p.Gly73Asp) variant of AICDA (Q9GZX7)
G73D (p.Gly73Asp) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G73D (p.Gly73Asp) variant details
- p.Gly73Asp
- rs750738642
- ClinGen CA6434470
- cosmic curated COSV57564
- ClinVar RCV003494382
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.14
- MetaLR 0.11
- MetaSVM -0.97
- CADD 19.40
- PolyPhen-2 0.12
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available