E100K (p.Glu100Lys) variant of ABCC6 (O95255)
E100K (p.Glu100Lys) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E100K (p.Glu100Lys) variant details
- p.Glu100Lys
- TOPMed rs1411728572
- gnomAD rs1411728572
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.09
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.87
- Most common in the REMAINING population (allele frequency 4.7e-05)
- Structural context available