M57T (p.Met57Thr) variant of AGXT (P21549)
M57T (p.Met57Thr) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M57T (p.Met57Thr) variant details
- p.Met57Thr
- gnomAD 2-240869174-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.55
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-06)
- Structural context available
- AGXT complementation assay *1 b: score 0.365
- Literature evidence available