A45D (p.Ala45Asp) variant of ADAMTS13 (Q76LX8)
A45D (p.Ala45Asp) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar 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 0.18 / 1. The record also includes population frequency data and structural context.
A45D (p.Ala45Asp) variant details
- p.Ala45Asp
- ExAC rs782570157
- TOPMed rs782570157
- gnomAD rs782570157
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.12
- MetaLR 0.28
- MetaSVM -0.86
- CADD 7.52
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available