R48P (p.Arg48Pro) variant of AXL (P30530)
R48P (p.Arg48Pro) 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 0.55 / 1. The record also includes population frequency data and structural context.
R48P (p.Arg48Pro) variant details
- p.Arg48Pro
- rs200598880
- ClinGen CA405981245
- ClinVar RCV004108308
- 1000Genomes rs200598880
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.39
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available