G39E (p.Gly39Glu) variant of ELN (Elastin)
G39E (p.Gly39Glu) in ELN (Elastin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G39E (p.Gly39Glu) variant details
- p.Gly39Glu
- TOPMed rs1204787574
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.52
- CADD 26.60
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available