A690T (p.Ala690Thr) variant of ADAMTS13 (Q76LX8)
A690T (p.Ala690Thr) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A690T (p.Ala690Thr) variant details
- p.Ala690Thr
- rs374840594
- ClinGen CA200933928
- cosmic curated COSV63019
- ClinVar RCV001507767
- Likely pathogenic
- not provided; Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.31
- MetaLR 0.15
- MetaSVM -1.00
- CADD 15.20
- PolyPhen-2 0.05
- SIFT 0.11
- ClinVar: Likely pathogenic (not provided; Upshaw-Schulman syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- Structural context available