K8E (p.Lys8Glu) variant of AQP1 (Aquaporin-1)
K8E (p.Lys8Glu) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
K8E (p.Lys8Glu) variant details
- p.Lys8Glu
- gnomAD rs1269219164
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.70
- MetaLR 0.61
- MetaSVM 0.30
- CADD 24.30
- PolyPhen-2 0.62
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available