K51R (p.Lys51Arg) variant of AQP1 (Aquaporin-1)
K51R (p.Lys51Arg) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
K51R (p.Lys51Arg) variant details
- p.Lys51Arg
- rs1791506756
- gnomAD 7-30921777-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0528
- CADD 1.38
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available