V346M (p.Val346Met) variant of VDR (Vitamin D3 receptor)
V346M (p.Val346Met) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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, published literature, and structural context.
V346M (p.Val346Met) variant details
- p.Val346Met
- rs267607169
- ClinGen CA119044
- cosmic curated COSV57468
- ClinVar RCV000008200
- Likely pathogenic
- not provided; Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.86
- MetaLR 0.91
- MetaSVM 1.03
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Vitamin D-dependent rickets type II with alopecia)
- EBI: Pathogenic (in VDDR2A)
- UniProt: Pathogenic (in VDDR2A)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets. (PMID 17970811)
- Cited in: Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia. (PMID 28698609)