F14I (p.Phe14Ile) variant of AQP2 (Aquaporin-2)
F14I (p.Phe14Ile) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
F14I (p.Phe14Ile) variant details
- p.Phe14Ile
- gnomAD 12-49950870-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.23
- CADD 16.50
- PolyPhen-2 0.06
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available