K109R (p.Lys109Arg) variant of VDR (Vitamin D3 receptor)
K109R (p.Lys109Arg) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
K109R (p.Lys109Arg) variant details
- p.Lys109Arg
- Ensembl rs1945519031
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.31
- MetaLR 0.68
- MetaSVM 0.23
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.53
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available