W34R (p.Trp34Arg) variant of AQP2 (Aquaporin-2)
W34R (p.Trp34Arg) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
W34R (p.Trp34Arg) variant details
- p.Trp34Arg
- gnomAD 12-49950930-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.75
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available