S138S (p.Ser138Ser) variant of AQP3 (Aquaporin-3)
S138S (p.Ser138Ser) in AQP3 (Aquaporin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S138S (p.Ser138Ser) variant details
- p.Ser138Ser
- rs1334511730
- gnomAD 9-33442930-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 6.73
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available