C27R (p.Cys27Arg) variant of ADAMTS13 (Q76LX8)
C27R (p.Cys27Arg) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
C27R (p.Cys27Arg) variant details
- p.Cys27Arg
- gnomAD 9-133422522-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.39
- MetaLR 0.42
- MetaSVM -0.56
- CADD 18.60
- PolyPhen-2 0.41
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available