R4C (p.Arg4Cys) variant of ADAMTS13 (Q76LX8)
R4C (p.Arg4Cys) 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 0.23 / 1. The record also includes population frequency data and structural context.
R4C (p.Arg4Cys) variant details
- p.Arg4Cys
- rs782204201
- ClinGen CA200878998
- ClinVar RCV002610239
- ExAC rs782204201
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.14
- MetaLR 0.39
- MetaSVM -0.59
- CADD 19.20
- PolyPhen-2 0.36
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available