L13R (p.Leu13Arg) variant of ADAMTS13 (Q76LX8)
L13R (p.Leu13Arg) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L13R (p.Leu13Arg) variant details
- p.Leu13Arg
- gnomAD 9-133422481-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.34
- MetaLR 0.50
- MetaSVM -0.43
- CADD 14.90
- PolyPhen-2 0.49
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available