S41* (p.Ser41Ter) variant of LDLR (Low-density lipoprotein receptor)
S41* (p.Ser41Ter) in LDLR (Low-density lipoprotein receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S41* (p.Ser41Ter) variant details
- p.Ser41Ter
- gnomAD 19-11090632-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 10.70
- Population evidence available
- Structural context available
- Literature evidence available