V38M (p.Val38Met) variant of AXL (P30530)
V38M (p.Val38Met) in AXL (P30530) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V38M (p.Val38Met) variant details
- p.Val38Met
- rs781049505
- ClinGen CA9457853
- ClinVar RCV004141127
- ExAC rs781049505
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.10
- CADD 19.30
- PolyPhen-2 0.06
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.7e-05)
- Structural context available