G64D (p.Gly64Asp) variant of ADAMTS13 (Q76LX8)
G64D (p.Gly64Asp) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G64D (p.Gly64Asp) variant details
- p.Gly64Asp
- gnomAD 9-133424339-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.08
- MetaLR 0.29
- MetaSVM -0.88
- CADD 6.65
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available