K15E (p.Lys15Glu) variant of AQP7 (Aquaporin-7)
K15E (p.Lys15Glu) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K15E (p.Lys15Glu) variant details
- p.Lys15Glu
- ExAC rs758186124
- gnomAD rs758186124
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.16
- CADD 18.40
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available