L3R (p.Leu3Arg) variant of CHRNA4 (P43681)
L3R (p.Leu3Arg) in CHRNA4 (P43681) 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 0.39 / 1.
L3R (p.Leu3Arg) variant details
- p.Leu3Arg
- rs2145412488
- ClinGen CA409645050
- ClinVar RCV001560283
- Ensembl rs2145412488
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- AlphaMissense 0.07
- MetaLR 0.27
- MetaSVM -0.74
- PolyPhen-2 0.62
- SIFT 0.01
- MutPred 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance