G30W (p.Gly30Trp) variant of AQP1 (Aquaporin-1)
G30W (p.Gly30Trp) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
G30W (p.Gly30Trp) variant details
- p.Gly30Trp
- gnomAD 7-30921601-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0428
- CADD 0.30
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available