V23I (p.Val23Ile) variant of LDLR (Low-density lipoprotein receptor)
V23I (p.Val23Ile) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V23I (p.Val23Ile) variant details
- p.Val23Ile
- rs1210310746
- gnomAD 19-11090649-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 3.58
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available