F33S (p.Phe33Ser) variant of ADAMTS13 (Q76LX8)
F33S (p.Phe33Ser) in ADAMTS13 (Q76LX8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
F33S (p.Phe33Ser) variant details
- p.Phe33Ser
- rs782134844
- gnomAD 9-133422540-TTC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 17.10
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available