A47A (p.Ala47Ala) variant of AQP2 (Aquaporin-2)
A47A (p.Ala47Ala) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A47A (p.Ala47Ala) variant details
- p.Ala47Ala
- gnomAD 12-49950971-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.349
- AlphaMissense 0.12
- MetaLR 0.85
- MetaSVM 0.54
- CADD 2.20
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available