L19F (p.Leu19Phe) variant of ADAMTS13 (Q76LX8)
L19F (p.Leu19Phe) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- rs782561010
- ClinGen CA200879054
- ClinVar RCV003861120
- ClinVar RCV005040584
- Uncertain significance
- Upshaw-Schulman syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.29
- MetaLR 0.67
- MetaSVM -0.14
- CADD 19.20
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (Upshaw-Schulman syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available