E2D (p.Glu2Asp) variant of AGTRAP (Q6RW13)
E2D (p.Glu2Asp) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- gnomAD 1-11736214-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.16
- MetaSVM -0.81
- CADD 22.20
- Population evidence available
- Structural context available
- Literature evidence available