C24S (p.Cys24Ser) variant of VDR (Vitamin D3 receptor)
C24S (p.Cys24Ser) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Vitamin D-dependent rickets type II with alopecia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
C24S (p.Cys24Ser) variant details
- p.Cys24Ser
- gnomAD rs1267829972
- Uncertain significance
- Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.95
- MetaLR 1.00
- MetaSVM 0.91
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Vitamin D-dependent rickets type II with alopecia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- Structural context available