K5R (p.Lys5Arg) variant of AGXT (P21549)
K5R (p.Lys5Arg) in AGXT (P21549) is a missense 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, and structural context.
K5R (p.Lys5Arg) variant details
- p.Lys5Arg
- 1000Genomes rs182819405
- gnomAD rs182819405
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 2.63
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- AGXT complementation assay *1 b: score 0.814