H5L (p.His5Leu) variant of ADAMTS13 (Q76LX8)
H5L (p.His5Leu) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H5L (p.His5Leu) variant details
- p.His5Leu
- gnomAD 9-133422457-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.13
- MetaLR 0.33
- MetaSVM -0.75
- CADD 0.12
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available