G35D (p.Gly35Asp) variant of ELN (Elastin)
G35D (p.Gly35Asp) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, 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 0.57 / 1. The record also includes population frequency data and structural context.
G35D (p.Gly35Asp) variant details
- p.Gly35Asp
- rs782038454
- ClinGen CA4292260
- cosmic curated COSV52708
- ClinVar RCV003314950
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.45
- CADD 25.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available