V46M (p.Val46Met) variant of ADAMTS13 (Q76LX8)
V46M (p.Val46Met) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not specified; Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V46M (p.Val46Met) variant details
- p.Val46Met
- rs201522226
- ClinGen CA200879426
- cosmic curated COSV10743
- ClinVar RCV001168076
- Uncertain significance
- Inborn genetic diseases; not specified; Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.19
- MetaLR 0.58
- MetaSVM -0.37
- CADD 18.20
- PolyPhen-2 0.88
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified; Upshaw-Schulman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00028)
- 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)