Q44K (p.Gln44Lys) variant of ADAMTS13 (Q76LX8)
Q44K (p.Gln44Lys) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
Q44K (p.Gln44Lys) variant details
- p.Gln44Lys
- gnomAD rs1554784015
- Missense
- Variant Prioritization Score for Impact Estimate 0.0975
- REVEL 0.05
- MetaLR 0.23
- MetaSVM -0.89
- CADD 0.31
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available