A20P (p.Ala20Pro) variant of AQP1 (Aquaporin-1)
A20P (p.Ala20Pro) in AQP1 (Aquaporin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A20P (p.Ala20Pro) variant details
- p.Ala20Pro
- rs776037098
- gnomAD 7-30911965-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 25.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available