G68A (p.Gly68Ala) variant of ELN (Elastin)
G68A (p.Gly68Ala) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G68A (p.Gly68Ala) variant details
- p.Gly68Ala
- gnomAD 7-74041222-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.20
- CADD 17.50
- PolyPhen-2 0.04
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available