Q65Q (p.Gln65Gln) variant of AGXT (P21549)
Q65Q (p.Gln65Gln) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q65Q (p.Gln65Gln) variant details
- p.Gln65Gln
- rs890310872
- gnomAD 2-240869199-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 9.47
- Most common in the African/African-American population (allele frequency 7.8e-05)
- Structural context available
- AGXT complementation assay *1 b: score 0.305
- Literature evidence available