E2V (p.Glu2Val) variant of AGTRAP (Q6RW13)
E2V (p.Glu2Val) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E2V (p.Glu2Val) variant details
- p.Glu2Val
- gnomAD 1-11736213-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.46
- MetaLR 0.22
- MetaSVM -0.53
- CADD 25.60
- Population evidence available
- Structural context available
- Literature evidence available