T48M (p.Thr48Met) variant of VCAN (Versican core protein)
T48M (p.Thr48Met) in VCAN (Versican core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T48M (p.Thr48Met) variant details
- p.Thr48Met
- rs201043051
- ClinGen CA3332402
- cosmic curated COSV54104
- ClinVar RCV001369660
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.24
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- 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)