K117T (p.Lys117Thr) variant of VDR (Vitamin D3 receptor)
K117T (p.Lys117Thr) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K117T (p.Lys117Thr) variant details
- p.Lys117Thr
- TOPMed rs1277932912
- gnomAD rs1277932912
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.18
- MetaLR 0.48
- MetaSVM -0.39
- CADD 17.70
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available