A20V (p.Ala20Val) variant of AQP1 (Aquaporin-1)
A20V (p.Ala20Val) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- gnomAD 7-30921666-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- CADD 4.22
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available