A71E (p.Ala71Glu) variant of ELN (Elastin)
A71E (p.Ala71Glu) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A71E (p.Ala71Glu) variant details
- p.Ala71Glu
- gnomAD 7-74041231-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.24
- CADD 8.63
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available