A5D (p.Ala5Asp) variant of AGTRAP (Q6RW13)
A5D (p.Ala5Asp) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A5D (p.Ala5Asp) variant details
- p.Ala5Asp
- gnomAD 1-11744537-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.36
- CADD 4.81
- SIFT 0.74
- Population evidence available
- Structural context available
- Literature evidence available