G54R (p.Gly54Arg) variant of ELN (Elastin)
G54R (p.Gly54Arg) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- gnomAD 7-74036581-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.27
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available