A13P (p.Ala13Pro) variant of AQP1 (Aquaporin-1)
A13P (p.Ala13Pro) in AQP1 (Aquaporin-1) is a missense 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.
A13P (p.Ala13Pro) variant details
- p.Ala13Pro
- gnomAD 7-30921644-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.081
- CADD 3.63
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available