Y43H (p.Tyr43His) variant of ELN (Elastin)
Y43H (p.Tyr43His) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Y43H (p.Tyr43His) variant details
- p.Tyr43His
- ExAC rs781876912
- gnomAD rs781876912
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.27
- CADD 26.00
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00052)
- Structural context available