Y49C (p.Tyr49Cys) variant of ADAMTS13 (Q76LX8)
Y49C (p.Tyr49Cys) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar 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 0.36 / 1. The record also includes population frequency data and structural context.
Y49C (p.Tyr49Cys) variant details
- p.Tyr49Cys
- ESP rs373832736
- TOPMed rs373832736
- gnomAD rs373832736
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.21
- MetaLR 0.62
- MetaSVM -0.28
- CADD 19.30
- PolyPhen-2 0.95
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available