G54S (p.Gly54Ser) variant of AQP3 (Aquaporin-3)
G54S (p.Gly54Ser) 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 0.49 / 1. The record also includes population frequency data and structural context.
G54S (p.Gly54Ser) variant details
- p.Gly54Ser
- NCI-TCGA Cosmic COSV5304
- cosmic curated COSV53047
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.29
- CADD 24.20
- PolyPhen-2 0.56
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available