G30A (p.Gly30Ala) variant of AQP1 (Aquaporin-1)
G30A (p.Gly30Ala) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G30A (p.Gly30Ala) variant details
- p.Gly30Ala
- gnomAD 7-30921596-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- CADD 6.37
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available
- Literature evidence available