G53C (p.Gly53Cys) variant of ADAMTS13 (Q76LX8)
G53C (p.Gly53Cys) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G53C (p.Gly53Cys) variant details
- p.Gly53Cys
- gnomAD 9-133423152-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.20
- MetaLR 0.41
- MetaSVM -0.59
- CADD 15.20
- PolyPhen-2 0.54
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available