R25W (p.Arg25Trp) variant of ELN (Elastin)
R25W (p.Arg25Trp) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R25W (p.Arg25Trp) variant details
- p.Arg25Trp
- 1000Genomes rs782196221
- ExAC rs782196221
- TOPMed rs782196221
- gnomAD rs782196221
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.35
- CADD 27.80
- PolyPhen-2 0.65
- SIFT 0.00
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available