V12I (p.Val12Ile) variant of LDLR (Low-density lipoprotein receptor)
V12I (p.Val12Ile) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
V12I (p.Val12Ile) variant details
- p.Val12Ile
- gnomAD rs1470135357
- Missense
- Variant Prioritization Score for Impact Estimate 0.0686
- CADD 1.56
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available