L70P (p.Leu70Pro) variant of ELN (Elastin)
L70P (p.Leu70Pro) in ELN (Elastin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L70P (p.Leu70Pro) variant details
- p.Leu70Pro
- rs377037091
- ESP rs377037091
- ExAC rs377037091
- TOPMed rs377037091
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.28
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available