L721V (p.Leu721Val) variant of AXL (P30530)
L721V (p.Leu721Val) in AXL (P30530) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of NK-cell enteropathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
L721V (p.Leu721Val) variant details
- p.Leu721Val
- rs1599744167
- ClinGen CA405999885
- ClinVar RCV000791317
- Ensembl rs1599744167
- Likely pathogenic
- NK-cell enteropathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- AlphaMissense 0.92
- MetaLR 0.47
- MetaSVM 0.14
- PolyPhen-2 0.90
- SIFT 0.00
- MutPred 0.86
- ClinVar: Likely pathogenic (NK-cell enteropathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available