A54S (p.Ala54Ser) variant of ADAMTS13 (Q76LX8)
A54S (p.Ala54Ser) 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, published literature, and structural context.
A54S (p.Ala54Ser) variant details
- p.Ala54Ser
- gnomAD 9-133423155-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.09
- MetaLR 0.32
- MetaSVM -0.79
- CADD 2.58
- PolyPhen-2 0.09
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available