M57V (p.Met57Val) variant of AGXT (P21549)
M57V (p.Met57Val) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M57V (p.Met57Val) variant details
- p.Met57Val
- gnomAD rs868580226
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.88
- ESM-1b 0.96
- AlphaMissense 0.28
- CADD 25.00
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available
- AGXT complementation assay *1 b: score 0.365