R25G (p.Arg25Gly) variant of ELN (Elastin)
R25G (p.Arg25Gly) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R25G (p.Arg25Gly) variant details
- p.Arg25Gly
- gnomAD 7-74028260-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.22
- CADD 23.80
- PolyPhen-2 0.14
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available