R59H (p.Arg59His) variant of ADAMTS13 (Q76LX8)
R59H (p.Arg59His) 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 0.10 / 1. The record also includes population frequency data and structural context.
R59H (p.Arg59His) variant details
- p.Arg59His
- rs370929256
- ESP rs370929256
- ExAC rs370929256
- TOPMed rs370929256
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0975
- REVEL 0.06
- MetaLR 0.19
- MetaSVM -0.84
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available