K12P (p.Lys12Pro) variant of AGXT (P21549)
K12P (p.Lys12Pro) in AGXT (P21549) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K12P (p.Lys12Pro) variant details
- p.Lys12Pro
- gnomAD 2-240868890-A-ACC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.162
- CADD 11.50
- Population evidence available
- Structural context available
- AGXT complementation assay *2 b: score 1.17
- Literature evidence available