G50D (p.Gly50Asp) variant of AQP5 (Aquaporin-5)
G50D (p.Gly50Asp) 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 0.76 / 1. The record also includes population frequency data and structural context.
G50D (p.Gly50Asp) variant details
- p.Gly50Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.77
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available