Q44L (p.Gln44Leu) variant of ADAMTS13 (Q76LX8)
Q44L (p.Gln44Leu) 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.
Q44L (p.Gln44Leu) variant details
- p.Gln44Leu
- gnomAD rs1554784018
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.06
- MetaLR 0.32
- MetaSVM -0.83
- CADD 7.98
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available