V67M (p.Val67Met) variant of AGXT (P21549)
V67M (p.Val67Met) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V67M (p.Val67Met) variant details
- p.Val67Met
- ExAC rs753677855
- TOPMed rs753677855
- gnomAD rs753677855
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.25
- CADD 13.40
- PolyPhen-2 0.19
- SIFT 0.11
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00015)
- Structural context available
- AGXT complementation assay *1 b: score 0.411