Q68R (p.Gln68Arg) variant of ADAMTS13 (Q76LX8)
Q68R (p.Gln68Arg) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar 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 0.12 / 1. The record also includes population frequency data and structural context.
Q68R (p.Gln68Arg) variant details
- p.Gln68Arg
- TOPMed rs1196047412
- gnomAD rs1196047412
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.09
- MetaLR 0.22
- MetaSVM -0.73
- CADD 0.29
- PolyPhen-2 0.03
- SIFT 0.70
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available