E2G (p.Glu2Gly) variant of AGTRAP (Q6RW13)
E2G (p.Glu2Gly) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- gnomAD 1-11736213-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.19
- MetaSVM -0.67
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available