V56V (p.Val56Val) variant of AQP2 (Aquaporin-2)
V56V (p.Val56Val) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V56V (p.Val56Val) variant details
- p.Val56Val
- rs982837638
- gnomAD 12-49950998-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.397
- AlphaMissense 0.06
- MetaLR 0.77
- MetaSVM -0.00
- CADD 5.67
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available