P9R (p.Pro9Arg) variant of ELN (Elastin)
P9R (p.Pro9Arg) in ELN (Elastin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P9R (p.Pro9Arg) variant details
- p.Pro9Arg
- ExAC rs782292334
- TOPMed rs782292334
- gnomAD rs782292334
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.20
- CADD 4.74
- PolyPhen-2 0.00
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available