V66A (p.Val66Ala) variant of ELN (Elastin)
V66A (p.Val66Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V66A (p.Val66Ala) variant details
- p.Val66Ala
- rs1005603513
- ClinGen CA160125816
- ClinVar RCV003518314
- TOPMed rs1005603513
- Uncertain significance
- Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.06
- CADD 10.40
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Supravalvar aortic stenosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available