L50W (p.Leu50Trp) variant of ADAMTS13 (Q76LX8)
L50W (p.Leu50Trp) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L50W (p.Leu50Trp) variant details
- p.Leu50Trp
- TOPMed rs1252090544
- gnomAD rs1252090544
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.15
- MetaLR 0.53
- MetaSVM -0.43
- CADD 14.10
- PolyPhen-2 0.72
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available