M49R (p.Met49Arg) variant of AGXT (P21549)
M49R (p.Met49Arg) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M49R (p.Met49Arg) variant details
- p.Met49Arg
- gnomAD 2-240869011-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 23.40
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- AGXT complementation assay *1 B: score 1.11
- Literature evidence available