I23L (p.Ile23Leu) variant of VDR (Vitamin D3 receptor)
I23L (p.Ile23Leu) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
I23L (p.Ile23Leu) variant details
- p.Ile23Leu
- TOPMed rs1946077321
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.65
- MetaLR 0.75
- MetaSVM 0.28
- CADD 23.90
- PolyPhen-2 0.42
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available