G30V (p.Gly30Val) variant of AQP5 (Aquaporin-5)
G30V (p.Gly30Val) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G30V (p.Gly30Val) variant details
- p.Gly30Val
- gnomAD 12-49962106-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.75
- CADD 23.60
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available