V37I (p.Val37Ile) variant of ELN (Elastin)
V37I (p.Val37Ile) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V37I (p.Val37Ile) variant details
- p.Val37Ile
- ESP rs368112890
- ExAC rs368112890
- TOPMed rs368112890
- gnomAD rs368112890
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.13
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available