L13P (p.Leu13Pro) variant of ADAMTS13 (Q76LX8)
L13P (p.Leu13Pro) in ADAMTS13 (Q76LX8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- rs782769020
- gnomAD 9-133422476-T-TCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.71
- Population evidence available
- Structural context available
- Literature evidence available