K12N (p.Lys12Asn) variant of AGXT (P21549)
K12N (p.Lys12Asn) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K12N (p.Lys12Asn) variant details
- p.Lys12Asn
- TOPMed rs1277875813
- gnomAD rs1277875813
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 15.40
- PolyPhen-2 0.17
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- AGXT complementation assay *2 b: score 1.17