S3S (p.Ser3Ser) variant of AQP1 (Aquaporin-1)
S3S (p.Ser3Ser) in AQP1 (Aquaporin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S3S (p.Ser3Ser) variant details
- p.Ser3Ser
- rs574768358
- gnomAD 7-30911918-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 8.88
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Literature evidence available