P12del (p.Pro12del) variant of AQP1 (Aquaporin-1)
P12del (p.Pro12del) 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.
P12del (p.Pro12del) variant details
- gnomAD 7-30921638-TCCC-T
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.0898
- CADD 1.29
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available