S48S (p.Ser48Ser) variant of ADAMTS13 (Q76LX8)
S48S (p.Ser48Ser) in ADAMTS13 (Q76LX8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S48S (p.Ser48Ser) variant details
- p.Ser48Ser
- gnomAD 9-133423139-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0838
- CADD 0.44
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available