K8del (p.Lys8del) variant of AQP1 (Aquaporin-1)
K8del (p.Lys8del) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K8del (p.Lys8del) variant details
- rs1391602963
- gnomAD 7-30911924-CAAG-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 19.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available