M45V (p.Met45Val) variant of AGXT (P21549)
M45V (p.Met45Val) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M45V (p.Met45Val) variant details
- p.Met45Val
- gnomAD 2-240868998-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.20
- ESM-1b 0.05
- AlphaMissense 0.11
- CADD 0.70
- PolyPhen-2 0.00
- SIFT 0.58
- Population evidence available
- Structural context available
- AGXT complementation assay *2 B: score 1.03
- Literature evidence available