G29A (p.Gly29Ala) variant of ADAMTS13 (Q76LX8)
G29A (p.Gly29Ala) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G29A (p.Gly29Ala) variant details
- p.Gly29Ala
- TOPMed rs1387967134
- gnomAD rs1387967134
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.14
- MetaLR 0.46
- MetaSVM -0.21
- CADD 11.80
- PolyPhen-2 0.07
- SIFT 0.19
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available