C14F (p.Cys14Phe) variant of ADAMTS13 (Q76LX8)
C14F (p.Cys14Phe) 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 0.20 / 1. The record also includes population frequency data and structural context.
C14F (p.Cys14Phe) variant details
- p.Cys14Phe
- ExAC rs782679501
- TOPMed rs782679501
- gnomAD rs782679501
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.25
- MetaLR 0.33
- MetaSVM -0.64
- CADD 2.25
- PolyPhen-2 0.46
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available