G42G (p.Gly42Gly) variant of AGXT (P21549)
G42G (p.Gly42Gly) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G42G (p.Gly42Gly) variant details
- p.Gly42Gly
- rs1251984525
- gnomAD 2-240868991-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0877
- CADD 1.09
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.601
- Literature evidence available