G29E (p.Gly29Glu) variant of ADAMTS13 (Q76LX8)
G29E (p.Gly29Glu) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G29E (p.Gly29Glu) variant details
- p.Gly29Glu
- TOPMed rs1387967134
- gnomAD rs1387967134
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.37
- MetaLR 0.63
- MetaSVM 0.14
- CADD 22.10
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available