V13I (p.Val13Ile) variant of ELN (Elastin)
V13I (p.Val13Ile) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ELN-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V13I (p.Val13Ile) variant details
- p.Val13Ile
- ExAC rs782726436
- TOPMed rs782726436
- gnomAD rs782726436
- Uncertain significance
- ELN-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.20
- CADD 22.70
- PolyPhen-2 0.12
- SIFT 0.01
- ClinVar: Uncertain significance (ELN-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available