A13A (p.Ala13Ala) variant of AQP5 (Aquaporin-5)
A13A (p.Ala13Ala) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A13A (p.Ala13Ala) variant details
- p.Ala13Ala
- gnomAD 12-49962056-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0827
- CADD 0.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available