G30S (p.Gly30Ser) variant of AQP5 (Aquaporin-5)
G30S (p.Gly30Ser) in AQP5 (Aquaporin-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- rs139623970
- ClinGen CA236692301
- NCI-TCGA Cosmic COSV9952
- ClinVar RCV001355639
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.78
- CADD 25.50
- PolyPhen-2 0.68
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available