S28T (p.Ser28Thr) variant of AQP1 (Aquaporin-1)
S28T (p.Ser28Thr) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
S28T (p.Ser28Thr) variant details
- p.Ser28Thr
- gnomAD 7-30921668-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0417
- CADD 0.17
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- Literature evidence available