V46V (p.Val46Val) variant of ADAMTS13 (Q76LX8)
V46V (p.Val46Val) in ADAMTS13 (Q76LX8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V46V (p.Val46Val) variant details
- p.Val46Val
- rs369130757
- gnomAD 9-133423133-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 0.69
- Most common in the HGDP:SAN population (allele frequency 0.17)
- Structural context available
- Literature evidence available