C44Y (p.Cys44Tyr) variant of VDR (Vitamin D3 receptor)
C44Y (p.Cys44Tyr) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
C44Y (p.Cys44Tyr) variant details
- p.Cys44Tyr
- cosmic curated COSV10874
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 0.93
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available