G5E (p.Gly5Glu) variant of ADH1B (P00325)
G5E (p.Gly5Glu) in ADH1B (P00325) 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 0.37 / 1. The record also includes population frequency data and structural context.
G5E (p.Gly5Glu) variant details
- p.Gly5Glu
- rs1353041149
- NCI-TCGA Cosmic COSV5929
- gnomAD rs1353041149
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.21
- CADD 25.60
- PolyPhen-2 0.93
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available