L63P (p.Leu63Pro) variant of ELN (Elastin)
L63P (p.Leu63Pro) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L63P (p.Leu63Pro) variant details
- p.Leu63Pro
- gnomAD 7-74037731-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.36
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available