S3L (p.Ser3Leu) variant of AQP1 (Aquaporin-1)
S3L (p.Ser3Leu) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S3L (p.Ser3Leu) variant details
- p.Ser3Leu
- rs867023718
- gnomAD 7-30921593-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 0.57
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available