I40F (p.Ile40Phe) variant of LDLR (Low-density lipoprotein receptor)
I40F (p.Ile40Phe) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
I40F (p.Ile40Phe) variant details
- p.Ile40Phe
- rs765969972
- ClinGen CA404074754
- ClinVar RCV003227425
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- AlphaMissense 0.20
- MetaLR 0.91
- MetaSVM 0.93
- PolyPhen-2 0.74
- SIFT 0.36
- EVE 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available