K64E (p.Lys64Glu) variant of ELN (Elastin)
K64E (p.Lys64Glu) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K64E (p.Lys64Glu) variant details
- p.Lys64Glu
- gnomAD rs1554666528
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.19
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available