K62* (p.Lys62Ter) variant of AQP7 (Aquaporin-7)
K62* (p.Lys62Ter) in AQP7 (Aquaporin-7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K62* (p.Lys62Ter) variant details
- p.Lys62Ter
- gnomAD rs1354514467
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available