G145D (p.Gly145Asp) variant of AQP3 (Aquaporin-3)
G145D (p.Gly145Asp) in AQP3 (Aquaporin-3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G145D (p.Gly145Asp) variant details
- p.Gly145Asp
- NCI-TCGA Cosmic COSV9995
- cosmic curated COSV99955
- TOPMed rs1826859975
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.39
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available