P61R (p.Pro61Arg) variant of ADAMTS13 (Q76LX8)
P61R (p.Pro61Arg) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P61R (p.Pro61Arg) variant details
- p.Pro61Arg
- TOPMed rs1554784541
- gnomAD rs1554784541
- Uncertain significance
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.13
- MetaLR 0.34
- MetaSVM -0.67
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (Upshaw-Schulman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available