K12Q (p.Lys12Gln) variant of AGXT (P21549)
K12Q (p.Lys12Gln) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
K12Q (p.Lys12Gln) variant details
- p.Lys12Gln
- Ensembl rs2106427300
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.09
- Structural context available
- AGXT complementation assay *2 b: score 1.17