R59C (p.Arg59Cys) variant of ADAMTS13 (Q76LX8)
R59C (p.Arg59Cys) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R59C (p.Arg59Cys) variant details
- p.Arg59Cys
- rs139735640
- 1000Genomes rs139735640
- ESP rs139735640
- ExAC rs139735640
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.18
- MetaLR 0.34
- MetaSVM -0.72
- CADD 8.93
- PolyPhen-2 0.19
- SIFT 0.12
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available