N37S (p.Asn37Ser) variant of VDR (Vitamin D3 receptor)
N37S (p.Asn37Ser) 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 0.79 / 1. The record also includes population frequency data and structural context.
N37S (p.Asn37Ser) variant details
- p.Asn37Ser
- rs370473254
- ClinGen CA6534077
- ClinVar RCV001907086
- ClinVar RCV002246589
- Uncertain significance
- not provided; Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.86
- MetaLR 0.92
- MetaSVM 1.05
- CADD 25.70
- PolyPhen-2 0.97
- SIFT 0.05
- 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 East Asian population (allele frequency 7.6e-05)
- Structural context available