A74T (p.Ala74Thr) variant of AQP3 (Aquaporin-3)
A74T (p.Ala74Thr) in AQP3 (Aquaporin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
A74T (p.Ala74Thr) variant details
- p.Ala74Thr
- rs1385987539
- ClinGen CA373198235
- ClinVar RCV004096629
- TOPMed rs1385987539
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.18
- CADD 22.40
- PolyPhen-2 0.38
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available