R48W (p.Arg48Trp) variant of AXL (P30530)
R48W (p.Arg48Trp) 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 0.42 / 1. The record also includes population frequency data and structural context.
R48W (p.Arg48Trp) variant details
- p.Arg48Trp
- rs774132867
- ClinGen CA9457860
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56563
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.42
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available