K5K (p.Lys5Lys) variant of AGXT (P21549)
K5K (p.Lys5Lys) in AGXT (P21549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K5K (p.Lys5Lys) variant details
- p.Lys5Lys
- rs767860823
- gnomAD 2-240868880-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.197
- CADD 4.55
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available
- AGXT complementation assay *1 b: score 0.814
- Literature evidence available