A48T (p.Ala48Thr) variant of AQP5 (Aquaporin-5)
A48T (p.Ala48Thr) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A48T (p.Ala48Thr) variant details
- p.Ala48Thr
- ExAC rs779906043
- gnomAD rs779906043
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.20
- CADD 16.50
- PolyPhen-2 0.15
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available