P6R (p.Pro6Arg) variant of ADAMTS13 (Q76LX8)
P6R (p.Pro6Arg) 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.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- ExAC rs782717483
- gnomAD rs782717483
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.17
- MetaLR 0.42
- MetaSVM -0.68
- CADD 1.26
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available