R4Q (p.Arg4Gln) variant of AXL (P30530)
R4Q (p.Arg4Gln) 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 0.12 / 1. The record also includes population frequency data and structural context.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- rs779811231
- ClinGen CA9457815
- cosmic curated COSV56567
- ClinVar RCV004222734
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.08
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available