G53G (p.Gly53Gly) variant of AQP2 (Aquaporin-2)
G53G (p.Gly53Gly) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G53G (p.Gly53Gly) variant details
- p.Gly53Gly
- gnomAD 12-49950989-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.325
- AlphaMissense 0.09
- MetaLR 0.74
- MetaSVM 0.04
- CADD 3.19
- PolyPhen-2 0.02
- SIFT 0.58
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available