P38L (p.Pro38Leu) variant of ELN (Elastin)
P38L (p.Pro38Leu) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- gnomAD 7-74035394-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.41
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available