H397P (p.His397Pro) variant of VDR (Vitamin D3 receptor)
H397P (p.His397Pro) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vitamin D-dependent rickets type II with alopecia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
H397P (p.His397Pro) variant details
- p.His397Pro
- rs886037890
- ClinGen CA10588004
- ClinVar RCV000243398
- Ensembl rs886037890
- Pathogenic
- Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Vitamin D-dependent rickets type II with alopecia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available