G51S (p.Gly51Ser) variant of AQP2 (Aquaporin-2)
G51S (p.Gly51Ser) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G51S (p.Gly51Ser) variant details
- p.Gly51Ser
- gnomAD 12-49950981-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.21
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available