S3C (p.Ser3Cys) variant of AQP1 (Aquaporin-1)
S3C (p.Ser3Cys) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
S3C (p.Ser3Cys) variant details
- p.Ser3Cys
- gnomAD 7-30921639-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0429
- CADD 0.31
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available