A54V (p.Ala54Val) variant of ADAMTS13 (Q76LX8)
A54V (p.Ala54Val) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- gnomAD 9-133423156-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.16
- MetaLR 0.50
- MetaSVM -0.48
- CADD 16.00
- PolyPhen-2 0.58
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available