S7P (p.Ser7Pro) variant of AQP5 (Aquaporin-5)
S7P (p.Ser7Pro) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S7P (p.Ser7Pro) variant details
- p.Ser7Pro
- gnomAD 12-49962036-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.52
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available