L19V (p.Leu19Val) variant of ADAMTS13 (Q76LX8)
L19V (p.Leu19Val) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- gnomAD 9-133422498-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.20
- MetaLR 0.49
- MetaSVM -0.42
- CADD 7.69
- PolyPhen-2 0.34
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available