C60Y (p.Cys60Tyr) variant of VDR (Vitamin D3 receptor)
C60Y (p.Cys60Tyr) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
C60Y (p.Cys60Tyr) variant details
- p.Cys60Tyr
- rs1454695428
- NCI-TCGA Cosmic COSV9996
- cosmic curated COSV99969
- gnomAD rs1454695428
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available