G12R (p.Gly12Arg) variant of ELN (Elastin)
G12R (p.Gly12Arg) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Supravalvar aortic stenosis; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- rs149127344
- ClinGen CA4292221
- ClinVar RCV000221011
- ClinVar RCV000554342
- Uncertain significance
- Supravalvar aortic stenosis; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.55
- CADD 26.90
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Uncertain significance (Supravalvar aortic stenosis; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available