A16A (p.Ala16Ala) variant of AQP1 (Aquaporin-1)
A16A (p.Ala16Ala) in AQP1 (Aquaporin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A16A (p.Ala16Ala) variant details
- p.Ala16Ala
- rs747080951
- gnomAD 7-30911957-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 7.74
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available