A13A (p.Ala13Ala) variant of AQP1 (Aquaporin-1)
A13A (p.Ala13Ala) in AQP1 (Aquaporin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A13A (p.Ala13Ala) variant details
- p.Ala13Ala
- rs748606187
- gnomAD 7-30911948-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 4.47
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Literature evidence available