P23L (p.Pro23Leu) variant of ELN (Elastin)
P23L (p.Pro23Leu) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- ExAC rs781894708
- TOPMed rs781894708
- gnomAD rs781894708
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0827
- CADD 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available