V8V (p.Val8Val) variant of AGXT (P21549)
V8V (p.Val8Val) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V8V (p.Val8Val) variant details
- p.Val8Val
- gnomAD 2-240868889-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.223
- CADD 1.88
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- AGXT complementation assay *1 b: score 0.93
- Literature evidence available