G145S (p.Gly145Ser) variant of AQP3 (Aquaporin-3)
G145S (p.Gly145Ser) 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 0.45 / 1. The record also includes population frequency data and structural context.
G145S (p.Gly145Ser) variant details
- p.Gly145Ser
- rs777633399
- NCI-TCGA Cosmic COSV9995
- cosmic curated COSV99955
- ExAC rs777633399
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.29
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.57
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available