I53T (p.Ile53Thr) variant of AQP5 (Aquaporin-5)
I53T (p.Ile53Thr) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
I53T (p.Ile53Thr) variant details
- p.Ile53Thr
- gnomAD rs1406235581
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.51
- CADD 19.10
- PolyPhen-2 0.89
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available