P21S (p.Pro21Ser) variant of VDR (Vitamin D3 receptor)
P21S (p.Pro21Ser) 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 not provided; Vitamin D-dependent rickets type II with alopecia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- rs371855706
- ClinGen CA6534091
- ClinVar RCV001233138
- ClinVar RCV005012650
- Uncertain significance
- not provided; Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.80
- MetaLR 0.89
- MetaSVM 0.95
- CADD 25.40
- PolyPhen-2 0.81
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Vitamin D-dependent rickets type II with alopecia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00012)
- Structural context available