A126T (p.Ala126Thr) variant of AQP3 (Aquaporin-3)
A126T (p.Ala126Thr) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A126T (p.Ala126Thr) variant details
- p.Ala126Thr
- cosmic curated COSV53047
- gnomAD rs1262959318
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.37
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available