P39S (p.Pro39Ser) variant of AQP2 (Aquaporin-2)
P39S (p.Pro39Ser) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- gnomAD 12-49950945-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.35
- CADD 22.50
- PolyPhen-2 0.41
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available