P34R (p.Pro34Arg) variant of ELN (Elastin)
P34R (p.Pro34Arg) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P34R (p.Pro34Arg) variant details
- p.Pro34Arg
- gnomAD rs1554664888
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.47
- CADD 25.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available