S37S (p.Ser37Ser) variant of AQP5 (Aquaporin-5)
S37S (p.Ser37Ser) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S37S (p.Ser37Ser) variant details
- p.Ser37Ser
- rs973567433
- gnomAD 12-49962128-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.84
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available