P58L (p.Pro58Leu) variant of ELN (Elastin)
P58L (p.Pro58Leu) in ELN (Elastin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- rs1554666513
- gnomAD 7-74037710-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 23.50
- Population evidence available
- Structural context available
- Literature evidence available