G17E (p.Gly17Glu) variant of ADAMTS13 (Q76LX8)
G17E (p.Gly17Glu) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G17E (p.Gly17Glu) variant details
- p.Gly17Glu
- gnomAD 9-133422493-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.30
- MetaLR 0.63
- MetaSVM -0.19
- CADD 19.50
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available