G11S (p.Gly11Ser) variant of AQP4 (Aquaporin-4)
G11S (p.Gly11Ser) in AQP4 (Aquaporin-4) 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 0.39 / 1. The record also includes population frequency data and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- rs756380305
- NCI-TCGA Cosmic COSV6721
- ExAC rs756380305
- gnomAD rs756380305
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.25
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available