I29M (p.Ile29Met) variant of AQP1 (Aquaporin-1)
I29M (p.Ile29Met) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
I29M (p.Ile29Met) variant details
- p.Ile29Met
- gnomAD 7-30921697-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0654
- CADD 3.10
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available