G12V (p.Gly12Val) variant of ELN (Elastin)
G12V (p.Gly12Val) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Williams syndrome; Supravalvar aortic stenosis; Cutis laxa, autosomal dominant 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- rs367634266
- ClinGen CA4292222
- ClinVar RCV001093392
- ClinVar RCV001158353
- Conflicting interpretations
- Williams syndrome; Supravalvar aortic stenosis; Cutis laxa, autosomal dominant 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.57
- CADD 25.00
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Williams syndrome; Supravalvar aortic stenosis; Cutis laxa, auto)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00019)
- Structural context available
- Cited in: FBLN5-Related Cutis Laxa. (PMID 20301756)
- Cited in: ELN-Related Cutis Laxa. (PMID 36173875)