C60W (p.Cys60Trp) variant of VDR (Vitamin D3 receptor)
C60W (p.Cys60Trp) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
C60W (p.Cys60Trp) variant details
- p.Cys60Trp
- ExAC rs778171487
- gnomAD rs778171487
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.95
- MetaLR 0.98
- MetaSVM 1.04
- CADD 21.90
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available