P55S (p.Pro55Ser) variant of ADAMTS13 (Q76LX8)
P55S (p.Pro55Ser) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P55S (p.Pro55Ser) variant details
- p.Pro55Ser
- gnomAD 9-133423158-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.09
- MetaLR 0.33
- MetaSVM -0.83
- CADD 0.03
- PolyPhen-2 0.02
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available