S63C (p.Ser63Cys) variant of AQP2 (Aquaporin-2)
S63C (p.Ser63Cys) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S63C (p.Ser63Cys) variant details
- p.Ser63Cys
- gnomAD 12-49951017-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.89
- AlphaMissense 0.14
- MetaLR 0.91
- MetaSVM 1.00
- CADD 24.70
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available