D36V (p.Asp36Val) variant of LDLR (Low-density lipoprotein receptor)
D36V (p.Asp36Val) in LDLR (Low-density lipoprotein receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
D36V (p.Asp36Val) variant details
- p.Asp36Val
- rs750945502
- gnomAD 19-11100257-CCAAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available