I40S (p.Ile40Ser) variant of LDLR (Low-density lipoprotein receptor)
I40S (p.Ile40Ser) in LDLR (Low-density lipoprotein receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
I40S (p.Ile40Ser) variant details
- p.Ile40Ser
- rs879254413
- gnomAD 19-11100272-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 27.90
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available