V29I (p.Val29Ile) variant of ELN (Elastin)
V29I (p.Val29Ile) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V29I (p.Val29Ile) variant details
- p.Val29Ile
- TOPMed rs1428169900
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.29
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available