G30D (p.Gly30Asp) variant of AQP5 (Aquaporin-5)
G30D (p.Gly30Asp) in AQP5 (Aquaporin-5) 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 0.65 / 1. The record also includes population frequency data and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- rs754419280
- NCI-TCGA Cosmic COSV9952
- ExAC rs754419280
- gnomAD rs754419280
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.77
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available