M52I (p.Met52Ile) variant of VDR (Vitamin D3 receptor)
M52I (p.Met52Ile) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Vitamin D-dependent rickets type II with alopecia; Inborn genetic diseases; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
M52I (p.Met52Ile) variant details
- p.Met52Ile
- rs200041268
- ClinGen CA6534014
- cosmic curated COSV99969
- ClinVar RCV001555738
- Conflicting interpretations
- Vitamin D-dependent rickets type II with alopecia; Inborn genetic diseases; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.67
- MetaLR 0.74
- MetaSVM 0.30
- CADD 24.50
- PolyPhen-2 0.33
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (Vitamin D-dependent rickets type II with alopecia; Inborn geneti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)