G51S (p.Gly51Ser) variant of AQP7 (Aquaporin-7)
G51S (p.Gly51Ser) 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 0.85 / 1. The record also includes population frequency data and structural context.
G51S (p.Gly51Ser) variant details
- p.Gly51Ser
- rs575153087
- NCI-TCGA Cosmic COSV5301
- cosmic curated COSV53011
- 1000Genomes rs575153087
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.91
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available