R59L (p.Arg59Leu) variant of ADAMTS13 (Q76LX8)
R59L (p.Arg59Leu) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R59L (p.Arg59Leu) variant details
- p.Arg59Leu
- ESP rs370929256
- ExAC rs370929256
- TOPMed rs370929256
- gnomAD rs370929256
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.11
- MetaLR 0.23
- MetaSVM -0.78
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.63
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available