L23P (p.Leu23Pro) variant of AQP1 (Aquaporin-1)
L23P (p.Leu23Pro) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L23P (p.Leu23Pro) variant details
- p.Leu23Pro
- gnomAD 7-30921678-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0919
- CADD 6.37
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available