G28A (p.Gly28Ala) variant of ELN (Elastin)
G28A (p.Gly28Ala) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G28A (p.Gly28Ala) variant details
- p.Gly28Ala
- gnomAD 7-74035364-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.50
- CADD 25.00
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available