G58V (p.Gly58Val) variant of ADAMTS13 (Q76LX8)
G58V (p.Gly58Val) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G58V (p.Gly58Val) variant details
- p.Gly58Val
- gnomAD 9-133424321-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.07
- MetaLR 0.40
- MetaSVM -0.64
- CADD 22.80
- PolyPhen-2 0.23
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available