I62K (p.Ile62Lys) variant of AQP2 (Aquaporin-2)
I62K (p.Ile62Lys) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
I62K (p.Ile62Lys) variant details
- p.Ile62Lys
- TOPMed rs1308492971
- gnomAD rs1308492971
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.71
- CADD 22.80
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available