I79M (p.Ile79Met) variant of ADAMTS13 (Q76LX8)
I79M (p.Ile79Met) in ADAMTS13 (Q76LX8) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I79M (p.Ile79Met) variant details
- p.Ile79Met
- rs281875297
- Ensembl rs281875297
- ClinGen CA220010
- ClinVar RCV000059763
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.18
- MetaLR 0.49
- MetaSVM -0.51
- CADD 19.20
- PolyPhen-2 0.67
- SIFT 0.01
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in TTP)
- UniProt: Pathogenic (in TTP)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura… (PMID 15009458)
- Cited in: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. (PMID 11586351)