R4H (p.Arg4His) variant of ADAMTS13 (Q76LX8)
R4H (p.Arg4His) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R4H (p.Arg4His) variant details
- p.Arg4His
- ExAC rs370406676
- TOPMed rs370406676
- gnomAD rs370406676
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.17
- MetaLR 0.28
- MetaSVM -0.71
- CADD 0.65
- PolyPhen-2 0.27
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available