A2V (p.Ala2Val) variant of AXL (P30530)
A2V (p.Ala2Val) in AXL (P30530) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs10411373
- ClinGen CA9457810
- ClinVar RCV003554155
- 1000Genomes rs10411373
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0793
- REVEL 0.07
- CADD 6.43
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available