T22I (p.Thr22Ile) variant of AQP1 (Aquaporin-1)
T22I (p.Thr22Ile) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T22I (p.Thr22Ile) variant details
- p.Thr22Ile
- gnomAD 7-30911974-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.29
- MetaLR 0.50
- MetaSVM -0.74
- CADD 8.22
- PolyPhen-2 0.00
- SIFT 0.83
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available