A103V (p.Ala103Val) variant of AQP7 (Aquaporin-7)
A103V (p.Ala103Val) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A103V (p.Ala103Val) variant details
- p.Ala103Val
- 1000Genomes rs140976103
- ESP rs140976103
- TOPMed rs140976103
- gnomAD rs140976103
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.19
- CADD 9.73
- PolyPhen-2 0.06
- SIFT 1.00
- Most common in the 1KG:GWD population (allele frequency 0.0087)
- Structural context available