V23L (p.Val23Leu) variant of LDLR (Low-density lipoprotein receptor)
V23L (p.Val23Leu) 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.
V23L (p.Val23Leu) variant details
- p.Val23Leu
- rs1210310746
- gnomAD 19-11090649-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- CADD 3.16
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available