G28R (p.Gly28Arg) variant of ELN (Elastin)
G28R (p.Gly28Arg) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G28R (p.Gly28Arg) variant details
- p.Gly28Arg
- gnomAD 7-74028269-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.60
- CADD 35.00
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available