A85T (p.Ala85Thr) variant of AQP7 (Aquaporin-7)
A85T (p.Ala85Thr) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A85T (p.Ala85Thr) variant details
- p.Ala85Thr
- gnomAD rs1397868274
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.07
- CADD 18.80
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available