L38V (p.Leu38Val) variant of ADAMTS13 (Q76LX8)
L38V (p.Leu38Val) in ADAMTS13 (Q76LX8) is a missense 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.
L38V (p.Leu38Val) variant details
- p.Leu38Val
- gnomAD 9-133423107-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.21
- MetaLR 0.66
- MetaSVM 0.22
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available