T21I (p.Thr21Ile) variant of AQP1 (Aquaporin-1)
T21I (p.Thr21Ile) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T21I (p.Thr21Ile) variant details
- p.Thr21Ile
- rs1276151898
- gnomAD 7-30921618-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 1.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.3e-06)
- Structural context available
- Literature evidence available