R7Q (p.Arg7Gln) variant of ADAMTS13 (Q76LX8)
R7Q (p.Arg7Gln) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- rs782744929
- ExAC rs782744929
- TOPMed rs782744929
- gnomAD rs782744929
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.07
- MetaLR 0.32
- MetaSVM -0.85
- CADD 0.55
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available