I62T (p.Ile62Thr) variant of AQP2 (Aquaporin-2)
I62T (p.Ile62Thr) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
I62T (p.Ile62Thr) variant details
- p.Ile62Thr
- TOPMed rs1308492971
- gnomAD rs1308492971
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.52
- CADD 19.60
- PolyPhen-2 0.03
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available