E98K (p.Glu98Lys) variant of VDR (Vitamin D3 receptor)
E98K (p.Glu98Lys) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
E98K (p.Glu98Lys) variant details
- p.Glu98Lys
- Ensembl rs1945520194
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.75
- MetaLR 0.87
- MetaSVM 0.82
- CADD 28.50
- PolyPhen-2 0.44
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available