R25R (p.Arg25Arg) variant of ELN (Elastin)
R25R (p.Arg25Arg) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R25R (p.Arg25Arg) variant details
- p.Arg25Arg
- rs782196221
- gnomAD 7-74028260-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 15.40
- Most common in the 1KG:ITU population (allele frequency 0.0098)
- Structural context available
- Literature evidence available