H5Q (p.His5Gln) variant of ADAMTS13 (Q76LX8)
H5Q (p.His5Gln) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
H5Q (p.His5Gln) variant details
- p.His5Gln
- 1000Genomes rs77985067
- ExAC rs77985067
- TOPMed rs77985067
- gnomAD rs77985067
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.07
- MetaLR 0.35
- MetaSVM -0.80
- CADD 4.35
- PolyPhen-2 0.00
- SIFT 0.28
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available