A20S (p.Ala20Ser) variant of AQP5 (Aquaporin-5)
A20S (p.Ala20Ser) in AQP5 (Aquaporin-5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD 12-49962073-TGGCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 27.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available