P60T (p.Pro60Thr) variant of ADAMTS13 (Q76LX8)
P60T (p.Pro60Thr) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P60T (p.Pro60Thr) variant details
- p.Pro60Thr
- ESP rs370611753
- TOPMed rs370611753
- gnomAD rs370611753
- Uncertain significance
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.08
- MetaLR 0.33
- MetaSVM -0.82
- CADD 1.81
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Upshaw-Schulman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available