I94M (p.Ile94Met) variant of VDR (Vitamin D3 receptor)
I94M (p.Ile94Met) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
I94M (p.Ile94Met) variant details
- p.Ile94Met
- Ensembl rs1565613821
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.75
- MetaLR 0.90
- MetaSVM 0.83
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available