P38R (p.Pro38Arg) variant of AQP1 (Aquaporin-1)
P38R (p.Pro38Arg) 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.
P38R (p.Pro38Arg) variant details
- p.Pro38Arg
- rs1791505290
- gnomAD 7-30921720-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0506
- CADD 1.45
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available