P11S (p.Pro11Ser) variant of ADAMTS13 (Q76LX8)
P11S (p.Pro11Ser) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- gnomAD 9-133422474-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.10
- MetaLR 0.42
- MetaSVM -0.58
- CADD 1.95
- PolyPhen-2 0.15
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available