P11L (p.Pro11Leu) variant of ELN (Elastin)
P11L (p.Pro11Leu) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- ExAC rs781993784
- gnomAD rs781993784
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.57
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available