V5G (p.Val5Gly) variant of AQP5 (Aquaporin-5)
V5G (p.Val5Gly) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V5G (p.Val5Gly) variant details
- p.Val5Gly
- Ensembl rs1592820431
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.47
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available