G73D (p.Gly73Asp) variant of AQP7 (Aquaporin-7)
G73D (p.Gly73Asp) in AQP7 (Aquaporin-7) 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 0.60 / 1. The record also includes population frequency data and structural context.
G73D (p.Gly73Asp) variant details
- p.Gly73Asp
- rs1198614474
- NCI-TCGA Cosmic COSV5301
- cosmic curated COSV53017
- gnomAD rs1198614474
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.73
- CADD 22.30
- PolyPhen-2 0.96
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available