C10Y (p.Cys10Tyr) variant of ADAMTS13 (Q76LX8)
C10Y (p.Cys10Tyr) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
C10Y (p.Cys10Tyr) variant details
- p.Cys10Tyr
- TOPMed rs1291133178
- gnomAD rs1291133178
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.19
- MetaLR 0.39
- MetaSVM -0.60
- CADD 14.60
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available