S7C (p.Ser7Cys) variant of AQP5 (Aquaporin-5)
S7C (p.Ser7Cys) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S7C (p.Ser7Cys) variant details
- p.Ser7Cys
- gnomAD 12-49962037-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.49
- CADD 23.60
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available