A8T (p.Ala8Thr) variant of AQP2 (Aquaporin-2)
A8T (p.Ala8Thr) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- TOPMed rs1354001307
- gnomAD rs1354001307
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.34
- CADD 22.60
- PolyPhen-2 0.34
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available