R7W (p.Arg7Trp) variant of ADAMTS13 (Q76LX8)
R7W (p.Arg7Trp) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R7W (p.Arg7Trp) variant details
- p.Arg7Trp
- rs34024143
- 1000Genomes rs34024143
- ESP rs34024143
- ExAC rs34024143
- Benign/Likely benign
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0822
- REVEL 0.06
- MetaLR 0.00
- MetaSVM -1.06
- CADD 0.57
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Benign/Likely benign (not provided; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:ORCADIAN population (allele frequency 0.21)
- Structural context available
- Cited in: Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. (PMID 11586351)
- Cited in: Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a… (PMID 16160007)