A63D (p.Ala63Asp) variant of AGTRAP (Q6RW13)
A63D (p.Ala63Asp) 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.
A63D (p.Ala63Asp) variant details
- p.Ala63Asp
- gnomAD 1-11746222-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 2.04
- SIFT 0.61
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available