R10R (p.Arg10Arg) variant of ELN (Elastin)
R10R (p.Arg10Arg) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R10R (p.Arg10Arg) variant details
- p.Arg10Arg
- gnomAD 7-74028217-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 10.80
- Population evidence available
- Structural context available
- Literature evidence available