P12P (p.Pro12Pro) variant of ADAMTS13 (Q76LX8)
P12P (p.Pro12Pro) in ADAMTS13 (Q76LX8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P12P (p.Pro12Pro) variant details
- p.Pro12Pro
- rs782511371
- gnomAD 9-133422479-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0911
- CADD 1.48
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available