P38H (p.Pro38His) variant of AQP1 (Aquaporin-1)
P38H (p.Pro38His) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
P38H (p.Pro38His) variant details
- p.Pro38His
- rs1018430650
- gnomAD 7-30921642-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0662
- CADD 3.17
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available