M53T (p.Met53Thr) variant of AGXT (P21549)
M53T (p.Met53Thr) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M53T (p.Met53Thr) variant details
- p.Met53Thr
- gnomAD 2-240869023-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.35
- ESM-1b 0.78
- AlphaMissense 0.18
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available
- Structural context available
- AGXT complementation assay *1 B: score 1.04
- Literature evidence available