A76S (p.Ala76Ser) variant of ADAMTS13 (Q76LX8)
A76S (p.Ala76Ser) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A76S (p.Ala76Ser) variant details
- p.Ala76Ser
- gnomAD rs1554784596
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.05
- MetaLR 0.32
- MetaSVM -0.84
- CADD 6.89
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available