Q65K (p.Gln65Lys) variant of AGXT (P21549)
Q65K (p.Gln65Lys) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q65K (p.Gln65Lys) variant details
- p.Gln65Lys
- TOPMed rs2058978010
- gnomAD rs2058978010
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 20.60
- PolyPhen-2 0.12
- SIFT 0.19
- Most common in the South Asian population (allele frequency 0.00023)
- Structural context available
- AGXT complementation assay *1 b: score 0.305