A7V (p.Ala7Val) variant of ELN (Elastin)
A7V (p.Ala7Val) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Supravalvar aortic stenosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs559210020
- ClinGen CA4292212
- ClinVar RCV001733443
- ClinVar RCV002538721
- Uncertain significance
- Inborn genetic diseases; not provided; Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.12
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Supravalvar aortic stenos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)