L50F (p.Leu50Phe) variant of ADAMTS13 (Q76LX8)
L50F (p.Leu50Phe) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
L50F (p.Leu50Phe) variant details
- p.Leu50Phe
- ExAC rs782217202
- gnomAD rs782217202
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.09
- MetaLR 0.24
- MetaSVM -0.89
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available