L50L (p.Leu50Leu) variant of ADAMTS13 (Q76LX8)
L50L (p.Leu50Leu) in ADAMTS13 (Q76LX8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- gnomAD 9-133423143-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0998
- CADD 2.71
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available