P60S (p.Pro60Ser) variant of ADAMTS13 (Q76LX8)
P60S (p.Pro60Ser) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
P60S (p.Pro60Ser) variant details
- p.Pro60Ser
- ESP rs370611753
- TOPMed rs370611753
- gnomAD rs370611753
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.09
- MetaLR 0.35
- MetaSVM -0.78
- CADD 2.16
- PolyPhen-2 0.08
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available