A40G (p.Ala40Gly) variant of ADAMTS13 (Q76LX8)
A40G (p.Ala40Gly) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A40G (p.Ala40Gly) variant details
- p.Ala40Gly
- gnomAD rs1554784008
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.04
- MetaLR 0.38
- MetaSVM -0.74
- CADD 15.50
- PolyPhen-2 0.04
- SIFT 0.19
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available