F33F (p.Phe33Phe) variant of ADAMTS13 (Q76LX8)
F33F (p.Phe33Phe) in ADAMTS13 (Q76LX8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
F33F (p.Phe33Phe) variant details
- p.Phe33Phe
- gnomAD 9-133422542-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 2.92
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available