V46L (p.Val46Leu) variant of ADAMTS13 (Q76LX8)
V46L (p.Val46Leu) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V46L (p.Val46Leu) variant details
- p.Val46Leu
- ExAC rs201522226
- TOPMed rs201522226
- gnomAD rs201522226
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.09
- MetaLR 0.32
- MetaSVM -0.83
- CADD 7.25
- PolyPhen-2 0.05
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available