R1219Q (p.Arg1219Gln) variant of ADAMTS13 (Q76LX8)
R1219Q (p.Arg1219Gln) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Upshaw-Schulman syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R1219Q (p.Arg1219Gln) variant details
- p.Arg1219Gln
- rs782649881
- ClinGen CA200944824
- NCI-TCGA Cosmic COSV5247
- cosmic curated COSV52470
- Likely pathogenic
- Upshaw-Schulman syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- AlphaMissense 0.21
- MetaLR 0.77
- MetaSVM -0.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.54
- ClinVar: Likely pathogenic (Upshaw-Schulman syndrome; not provided)
- EBI: Likely pathogenic (in TTP)
- UniProt: Likely pathogenic (in TTP)
- Population evidence available
- Structural context available