I37V (p.Ile37Val) variant of AGXT (P21549)
I37V (p.Ile37Val) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I37V (p.Ile37Val) variant details
- p.Ile37Val
- gnomAD 2-240868974-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.32
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- AGXT complementation assay *1 B: score 0.992
- Literature evidence available