R69S (p.Arg69Ser) variant of ADAMTS13 (Q76LX8)
R69S (p.Arg69Ser) 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, published literature, and structural context.
R69S (p.Arg69Ser) variant details
- p.Arg69Ser
- gnomAD 9-133424355-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.08
- MetaLR 0.26
- MetaSVM -0.85
- CADD 8.49
- PolyPhen-2 0.04
- SIFT 0.37
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available